Clinical Conditions

Down Syndrome: Definition/Description

It is a chromosomal disorder caused by an anomaly of chromosome 21. Down syndrome was the first condition associated with intellectual disability to be identified as a syndrome and the most common genetic cause of intellectual disability.

Epilepsy: Incidence

It is estimated that 470,000 of children in the U.S. have epilepsy, which equates to about 0.6% of children between 0 and 17 years of

Traumatic Brain Injury: Incidence

It is estimated that over 500,000 pediatric brain injuries occur each year, resulting in more than 35,000 hospitalizations and greater than 2,000 deaths.

Cerebral Palsy: Prognosis

Not a progressive condition Lifespan for adults is considered good but lower than the general populationIf they have severe limitations, they will require lifelong care management; 86% survival rate at age 50 for adults

Traumatic Brain Injury: Diagnosis

Pediatric Glasgow Coma Scale (PGCS) is a standardized measure level of consciousness of brain injury in infants and young children, CT or MRI scans can be performed to identify severity and location of possible injury Three areas are assessed through clinical testing and observation: eye-opening, verbal response, motor response The score range is 3 (lowest) - 15 (highest).

Prader-Willi Syndrome: Impact on Occupational Performance

Performing ADLs and self-care skills due to characteristic low muscle tone and poor gross and fine motor skills. Children with PWS often have difficulty feeding in infancy. Individuals diagnosed with PWS also experience sensory integration dysfunction making it difficult for them to participate in activities involving visual, tactile, vestibular, and proprioceptive systems. Increased anxiety and frustration are also prevalent in this population and makes it difficult for individuals to perform certain tasks that are challenging to them.

Traumatic Brain Injury: Medical Management

Pharmacological intervention: sedatives (e.g., midazolam, morphine, and other anesthetics) may be used to reduce agitation in the child Surgery: A craniotomy is a surgery that is performed for decompression. In this surgical intervention a section of the skull is removed to reduce the pressure being caused by the accumulation of blood in the skull. If there is active bleeding, it can also be stopped during this surgery. Therapy: Therapy interventions during the acute phase may begin when neurological stability is adequate. During acute rehabilitation, the main focus is to prevent joint deformity and provide graded and specific sensory stimulation. Because TBI affects many areas, a team approach is best suited for therapy services as they may need to receive multiple disciplines of service.

Down Syndrome: Incidence and Prevalence in the United States (U.S.)

-1 in 800 babies in US -6,000 each year Moms < 20 = 1 in 2,000 Moms > 40 = 1 in 40.

Spinal Cord Injury: Incidence

-1.99 SCIs per 100,000 for U.S. children -1,455 children are admitted to US hospitals annually for SCI treatment. 5% < 15 years old 20% < 20 years old

Spinal Cord Injury: Diagnosis

-Clinical testing for movment and sensory function -X-rays, CT scans or an MRI can be done -More comprehensicve neuro exams may be performed to assess completeness

Down Syndrome: Medical Complications/Precautions

-Congenital heart defects -Sensory impairments -Endocrine abnormalities -Orthopedic problems -Obesity -Dental problems -Hematologic disorders -Leukemia -Epilepsy -Skin conditions -Gastrointestinal, renal, and urinary tract anomalies -Neuro developmental problems -Infertility -Dementia

Muscular Dystrophy: Clinical features Congential MD

-Consists of 30 different types of range expression (most of which are autosomal recessive) -Weakness is present at birth or begins shortly after birth (typically before age 2) -Infants will present with hypotonia and fail to meet motor developmental milestones -Some forms will present with severe cognitive disabilities

Angelman Syndrome: Clinical features/ Problems of AS Found in > 80% of cases

-Delayed disproportionate growth in head circumference, usually resulting in microcephaly by age 2 · Seizures, onset usually < 3 years of age -Seizure severity usually decreases with age but seizure disorder lasts throughout adulthood -Abnormal EEG, with characteristic pattern

Prader-Willi Syndrome: Clinical features/ Problems Name the signs and symptoms in Stage 1 of PWS:

-Hypotonic (low muscle tone)-Weak cry & poor suck reflex-Babies with PWS= usually unable to breastfeed & require tube-May suffer from failure to thrive if feeding is not treated-as grow older, strength and muscle tone-motor milestones are achieved, but are usually delayed

Spinal Cord Injury: Prognosis/ Outcome

-Lifelong disorder -Some children with an incomplete SCI will continue to experience increased motor function over time, but this may not translate to improved overall function; -Can live a long healthy life

Prader-Willi Syndrome: Clinical features/ Problems Name the signs and symptoms in Stage 2 of PWS:

-Unregulated appetite -Begins ages 2-6 -Lack normal hunger and satiety cues (result in HYPERPHAGIA) - not able to control food intake & overeat if not monitored -Food seeking -slower metabolism (ALL THESE PROBLEMS CAN LEAD TO MORBID OBESITY)

Muscular Dystrophy: Clinical features Duchenne muscular dystrophy

-Most common form -Sex-linked inheritance pattern (genetic error is carried on X chromosome—primarily affects males) -No functional dystropin being made -Weakness typically begins by 3 years of age -Affects muscles of shoulder girdle and hips first -Usually live into 30s -Gait abnormalities ("waddling") -Respiratory muscles and heart affected -Decreased IQ -Children have delayed onset of walking and signs of weakness usually present at 4 y/o

Muscular Dystrophy: Clinical features Emery-Dreifuss MD

-Sex-linked inheritance -Typically begins age 10 -Presents with weakness of the muscle that make up the shoulder and calf muscles -Presents with contractures in the elbows, neck, and heels very early during the disease -Cardiac issues may be present -Progression is slow -Cognitive functioning is NOT affected

Muscular Dystrophy: Clinical features Limb Girdle MD

-Weakness in shoulder and hip girdle -Males and females equally affected -Onset can begin in childhood, adolescence, or later into adulthood

Prader-Willi Syndrome: Incidence

1 in 15,000 to 1 in 25,000 in the U.S. *It occurs equally in males and females, and equally in all races.

Cerebral Palsy: Incidence

1 in 323 children per year in the U.S. are diagnosed with CP.

Fragile X Syndrome: Incidence and Prevalence

1 in 4,000 male births 1 in 8,000 female births per year.

Fetal Alcohol Syndrome: Etiology/Pathophysiology

1 in 9000 are affected but school records in some communities indicate numbers of 9 our of 1000 children.

Rett Syndrome: Incidence

1 in every 10,000 to 15,000 live female births

Angelman Syndrome: Incidence

1 in every 12,000 live births in the U.S.

Spina Bifida: Incidence

1,645 babies are born with spina bifida, Avg. 2 - 3 in 10,000 births Hispanic women= higher rates

Risk factors for having a child with Down syndrome include: (3)

1. Advancing maternal age 2. Having had one child with Down syndrome 3. Being carriers of the genetic translocation for Down syndrome

Rett Syndrome: Clinical Features Describe Stage 2: Rapid destruction state

1. Ages: 1-4 years old 2. May last for weeks or months 3. This stage may have either rapid or gradual onset of purposeful hand skills or spoken language lost

Cerebral Palsy: Clinical features The extrapyramidal (non-spastic) forms of cerebral palsy include:

1. Athetoid 2. Ataxic

Down Syndrome: Screening tests during pregnancy

1. Blood tests: measures levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby 2. Nuchal Translucency: an ultrasound is used to measure a specific area on the back of the baby's neck. Abnormalities are present when more fluid than usual tends to collect in this neck tissue.

Spinal Cord Injury: Clinical features 3 types of SPI

1. Cervical- Result tetraplegia (quad). However, depending on the specific location and severity of trauma, limited function may be retained. Motor function and sensory of the upper and lower extremities and trunk will be impaired. Additional signs and symptoms of cervical injuries include: inability or reduced ability to regulate heart rate, blood pressure, sweating, and body temperature; autonomic dysreflexia or abnormal increases in blood pressure, sweating, and other autonomic responses to pain or sensory disturbances. 2. Thoracic- Complete injuries at or below the thoracic spinal levels result in paraplegia. Respiratory muscles may be affected for high thoracic injuries, so a child's respiratory function will be diminished. 3. Lumbosacral- the effects of injuries to the lumbar or sacral regions of the spinal cord are decreased control of the legs and hips, and bladder and bowel function. Sexual function will also be associated with the sacral spinal segments and is often affected after an injury at this level. CTL

Down Syndrome: Diagnostic Tests During Pregnancy

1. Chorionic Villus Sampling (CVS): cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between weeks 10 and 13 of pregnancy. The risk of pregnancy loss (miscarriage) from a CVS is very low 2. Amniocentesis: A sample of amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. The sample is used to analyze the chromosomes of the fetus. This test is typically performed in the second trimester, after 15 weeks of pregnancy. This test carries a very low risk of miscarriage. 3. Preimplantation Genetic Diagnosis: an option for couples undergoing in vitro fertilization who are at increased risk of passing along certain genetic conditions. The embryo is tested for genetic abnormalities before it is implanted in the womb.

Spina Bifida: Prognosis Name the 2 serious implications for death in SB

1. Declining renal function 2. Shunt complications *Other medical challenges can be decubitus ulcers, progressive kyphosis or scoliosis, and bladder infections.

Muscular Dystrophy: Clinical features Name 5 different types we will talk about in this class!

1. Duchenne 2. Becker 3. Congenital 4. Limb-girdle 5. Emery- Dreifuss (DECLE)

Rett Syndrome: Clinical Features The clinical presentation of Rett syndrome is delineated in four stages that relate to the onset and progression of the clinical signs. Name the 4 stages:

1. Early onset 2. Rapid destructive state 3. Plateau 4. Late motor deterioration ERPL

Down Syndrome: Medical Management

1. Early screening to detect abnormalities 2. Early intervention may improve quality of life 3. Physician monitoring of growth, development, and vaccinations 4. Different stages of life require different services

Fragile X Syndrome: Outcome/Prognosis

1. Therapy & Special ed services for development/ management 2. Lifetime planning for supportive care may be required 3. Some male, and rarely females, may acquire FXS-associated tremor ataxia syndrome in their 50's, which is a progressive neurological condition. STRENGTHS OF FXS: Visual perception Contextual memory

Spina Bifida: Clinical Features Closed neural tube defects

1. This form consists of a diverse group of defects in which the spinal cord is marked by malformations of fat, bone, or meninges. 2. There may be few or no symptoms in this type; in others the malformation causes incomplete paralysis with urinary and bowel dysfunction

Epilepsy: Clinical Features Motor signs in generalized seizures include

1. Tonic-clonic 2. Absence 3. Atonic

Angelman Syndrome: Medical Management (6) and explain them

1. Feeding & Diet: · Monitor weight gain carefully · Anti-reflux medication for gastro-esophageal reflux · Encourage fluid intake to avoid constipation Encourage healthy eating habits from an early age 2. Development: · Assess gross motor and fine motor skills periodically · Consider orthotics for flat feet, ankle support · Evaluate strengths and needs · Consider most appropriate school placement · Speech therapy for early intervention in communication Teach self-care skills such as toileting, bathing, dressing, feeding and training regimens 3. Seizures: · Identify type of seizures occurring Commonly managed through anti-seizure medications 4. Sleep: · Improve sleep hygiene with ensuring correct room temperature, avoid caffeine, avoid stimulatory activities before bed, no television in the bedroom, maintain sleep schedule/bedtime routine Some cases may require medication prescribed by a physician 5. Behavior: · Difficult or challenging behavior may be caused by upset or boredom and providing entertainment/activities may help · Behavioral specialist may be involved May require pharmacological management 6. Speech & Communication: · Speech therapy · Early intervention · Tailored to the individual child · Concentrate on communication which is functional (used to communicate needs and express choices rather than just naming) · Use of adaptive technology to aid communication (communication boards, gesture dictionary, video diaries, etc.) Teach non-verbal communication to initiate, maintain and terminate social interactions

Epilepsy: Clinical Features There are three major groups of seizures based on where they occur in the brain:

1. Focal: start in one area or group of cells in one side of the brain 2. Generalized: occur in both hemispheres of the brain 3. Unknown

Prader-Willi Syndrome: Medical Management

1. Good nutrition 2. Human growth hormone (HGH) treatment 3. Sex hormone treatment 4. Weight management 5. Treatment of sleep disturbances 6. Referral to various therapies and services

Muscular Dystrophy: Diagnosis (3)

1. Laboratory Studies 2. Imaging Studies 3. Other Tests

Cerebral Palsy: Etiology/Pathophysiology Although the presence of risk factors does not mean a child will have CP, there are several risk factors that are associated with an increased risk of having CP. These include:

1. Low birth weight: < 5.5 lbs 2. Prematurity: b4 37 weeks 3. Infections during pregnancy: cytokines 4. Jaundice 5. Medical conditions of mom 6. Birth complications 7. Multiple births

Spina Bifida: Clinical Features Occulta

1. Malformation of one or more vertebrae, in which the opening in the spine is covered by a layer of skin. 2. The name "occulta" means "hidden", and indicates that the malformation, or opening in the spine, is covered by a layer of skin. 3. This type of spina bifida rarely causes symptoms.

Spina Bifida: Clinical Features Meningocele

1. Meninges are protruding from the spinal opening, which may or may not be covered by a layer of skin. 2. May have range of symptoms from almost no symptoms to mild motor and sensory impairments

Spinal Cord Injury: Most common cause of SPI is what? followed by?

1. Motor vehicle accidents 2. Followed by: Recreation and sports accident Medical and surgical conditions Violence/falls. Some other causes of SCI's are child abuse, birth injuries, juvenile RA, skeletal dysplasia, and transverse myelitis.

Spina Bifida: Clinical Features Name the 4 types

1. Occulta: Mildest form 2. Closed neural tube defects 3. Meningocele 4. Myelomeningocele: Most severe form

Traumatic Brain Injury: Etiology Some of the types of TBI's that can occur are:

1. Open head injuries 2. Closed head injuries 3. Anoxia

Rett Syndrome: Clinical Features Describe Stage 3: Plateau

1. Period of stabilization of loss of skills 2. Ages 2 and 10 and can last for years 3. Prominent during this stage: Seizures Apraxia Motor problems

Cerebral Palsy: Clinical features Name the 4 different types of CP:

1. Pyramidal (Spastic) CP 2. Athetoid (hyperkinetic) CP 3. Ataxic CP 4. Mixed cerebral palsy

Muscular Dystrophy: Medical therapy (4)

1. Steroids: prednisone may be used, but the use of steroids is done cautiously as the benefit may not outweigh the risks of long-term steroid use. Deflazacort. 2. Other pharmacological agents: Exondys 51 and Emflaza 3. Surgical interventions: (tendon transfer for joint protection) 4. Gene therapy: could address dystrophin mutation

Epilepsy: Etiology/Pathophysiology Genetic disorders that can cause seizures are broken into the following general categories: (5)

1. Syndromes in which seizures are common. For example, children with Angelman syndrome, Rett syndrome, and Prader-Willi syndrome are likely to experience seizures because of the syndromes. 2. Chromosomal deletion or duplication syndromes that cause seizures 3. Metabolic diseases such as hypoglycemia can cause seizures. 4. Mitochondrial diseases 5. Seizure disorders caused by single-gene mutations. Frontal lobe epilepsy is caused by mutations in the CHRNA4, CHRNB2, or CHRNA2 genes. It is characterized by nocturnal motor seizures.

Epilepsy: Clinical Features With epilepsy resulting from abnormal brain activity, seizures can have an affect on any process that your brain coordinates. The following are symptoms and signs of a seizure: (4)

1. Temporary confusion 2. A staring spell 3. Uncontrollable motor signs in the extremities 4. Loss of consciousness or awareness TAUL

Spina Bifida: Clinical Features Myelomeningocele

1. The spinal cord is exposed through the opening in the spine, resulting in partial or complete paralysis of the parts of the body below the spinal opening. 2. Paralysis may complete below the lesion resulting in motor and sensory impairments including urinary and bowel dysfunction

Down Syndrome: Name the 3 types and there characteristics

1. Trisomy 21: -95% have it - Nondisjunction or error of cell division, during meiosis (extra pair of chromosome 21 (3 instead of 2) 2. Mosaicism: - 1-2% have it - Some have 46 chromosome, some have 47 (these ppl have extra 21 chromosome) -Error in cell separation one of first few cells (MILDER intellectual disability) 3. Translocation: - 4 to 5 % have it - Part of the 21st chromosome is broken and attached to an extra chromosome 21 - ONLY form of DS that can be transferred from parent to child - Don't differ from Trisomy 21

Rett Syndrome: Clinical Features Name the symptoms (11)

1. Walking on the toes 2. Sleep problems 3. Wide-based gait 4. Bruxism and difficulty chewing 5. Slowed growth 6. Seizures 7. Cognitive disabilities 8. Digestive issues 9. Orthopedic issues including scoliosis 10. Respiratory difficulties while awake such as hyperventilation, apnea 11. Behavior challenges *Children with Rett syndrome often show little interest in play activities, social participation, and will have difficulty engaging in developmental play.

Epilepsy: Clinical Features Classification of seizures begin with 3 factors:

1. Where the seizure occurs in the brain 2. Whether the person has awareness during the seizure 3. Whether motor signs are produced during the seizure.

Epilepsy: Medical Management

1st step= is with ANTI-SEIZURE medication. Tegretol, Dilantin, and Depakote are brand names of medications frequently used. Surgery is only recommended if only if a child presents with severe epilepsy or does not exhibit a reduction in severe seizures through pharmacological interventions.

Spina Bifida: Etiology/Pathophysiology In women with pregestational diabetes (b4 pregnant), the risk of having a child with a CNS malformation, including myelomeningocele, is _____ to _____ times higher than the risk in the general population

2 to 10

Spina Bifida: Etiology/Pathophysiology Most infants born with myelomeningocele are born to mothers with no previously affected children. However, other offspring in a family with one affected child are at greater risk for neural tube defect than are children without affected siblings. The risk is 1 in ____-_____ for subsequent pregnancies, and if 2 children are affected, the risk becomes ____ in _____. An increase in the risk of myelomeningocele has also been reported for second- and third-degree relatives of affected individuals.

20-30 1 in 2

Down Syndrome: Etiology/Pathophysiology

23 pairs of chromosomes (½ from the mother and ½ from the father). DS= full or partial extra copy of chromosome 21. In 95% of cases, there is an extra whole chromosome 21 (Trisomy 21), which is almost always MATERNALLY derived.

The early signs of cerebral palsy usually appear before a child reaches ______ years of age.

3

Fetal Alcohol Syndrome: Prognosis The life expectancy for people with FAS is considerably lower than the general population, with the average of death occurring in the _____

30s However, the cause of death is wide-ranging. Whereas some die from medical issues related to the condition (congenital abnormalities), the leading cause of death reported is external factors including suicide, accidents, illicit drug use and alcohol use

Prader-Willi Syndrome: Etiology/Pathophysiology

7 genes on chromosome 15 are deleted or unexpressed on the paternal chromosome The condition results from several potential genetic errors: 1. Microdeletion (75% on long arm of paternal inherited chromosome 15) 2. Maternal uniparental disomy 3. Small percentage have imprinting defect

Cerebral Palsy: Definition

A group of related disorders that are the most common acquired neurological impairments in pediatric patients resulting in the most common physical disability in children. CP is caused by abnormal development of the brain or damage to the developing brain. CP is characterized by motor disability and related functional defects. The visible core of CP is characterized by spasticity, ataxia, or involuntary movements. which manifest very early in the development and does not progress.

Epilepsy: Etiology/Pathophysiology

A seizure results when a sudden imbalance occurs between the excitatory and inhibitory forces within the network of cortical neurons in favor of a sudden-onset net excitation.

Cerebral Palsy: Etiology/Pathophysiology Acquired CP

A small number of children have cerebral palsy as the result of brain damage in the first few months or years of life. most often occurs because of infections such as bacterial meningitis or viral encephalitis, or head injury from a MVA, a fall, or child abuse.

Spinal Cord Injury: Impact on Occupational Performance

ADLs Self-care activities At school, a child may require adjustments in their routine to successfully participate in the routine of the school day. A child may also experience a change in role function and performance during social activities. There is a psychosocial adjustment to living with a SCI for both the child and the family.

Traumatic Brain Injury Impact on Occupational Performance

ALL areas of occupation may be affected for a child with a TBI. *And because the TBI may affect development, the challenge may persist through adulthood and affect their education, work, and independent living.

Spina Bifida: Etiology/Pathophysiology If cranial portion fails to properly close, results in

ANACEPHALY

Cerebral Palsy: Clinical features Ataxic CP

Abnormal body movements affect the trunk, hands, arms, and legs. Ataxic CP causes problems with: -Motor control throughout the body is poor with lack of coordination and tremulous movement -Balance is poor -Precise movements. For example, the person may reach too far or too close to touch objects and may also have poor hand control (intention tremor) -A person with ataxic CP may walk with a wide base of support -Hand control. The person may have an intention tremor so their tremulous movement increases as they reach for an object. The person may not be able to button clothes, write, or use scissors

Muscular Dystrophy: Etiology/Pathophysiology

Abnormality in the genetic code related to dystrophin, a skeletal muscle protein (Dp427); results in the various manifestations commonly associated with MD, such as weakness and pseudohypertrophy Females may be carriers of MD, but are typically not affected or affected very rarely for some forms.

Epilepsy: Clinical Features Seizures with non-motor symptoms When these seizures occur, behavior is interrupted and most often look like the person is staring off with limited other movement. However, myoclonus may also occur in these types of seizures.

Absence seizures

Traumatic Brain Injury Definition

Acquired damage to brain tissue that temporarily or permanently impairs brain function. TBI involves physical, cognitive, and neurobehavioral changes that may have a lifetime effect on a child's physical, academic, behavioral, or social development and abilities.

Spinal Cord Injury: Medical Management

Acute Stage= the primary focus is on maintaining the persons' ability to breathe, preventing shock, immobilization of their neck, while avoiding any possible complication that can occur Rehab stage= focuses on emphasizing the maintenance and strengthening of existing muscle function, addressing motor skills feasible with the level of injury, as well as learning adaptive techniques for mobility to accomplish daily tasks Medical devices and adaptive equipment may also be used to assist a person in becoming more independent and promote increased mobility. These may include adaptive equipment such as a wheelchair; computer adaptations; electronic aids to daily living; electronic stimulation devices; and robotic gait training.

Cerebral Palsy: Impact on Occupational Performance

All body functions have the potential to be affected because the one body function category that is always affected in people with cerebral palsy is neuromusculoskeletal and movement-related function. Other body functions that may be affected depend on the type of cerebral palsy, the severity of the condition, and the presence of associated disorders

Traumatic Brain Injury: Etiology Anoxia

An anoxic brain injury results when oxygen is not supplied to the brain resulting in brain cell death. This type of brain injury results from a variety of mechanisms including carbon monoxide poisoning, near-drowning, severe blood loss, or respiratory arrest. The effects of an anoxic episode are often diffuse and severe. Severity of injury is generally categorized as mild, moderate, or severe. The determination of this is based on clinical features such as level of consciousness and length of post-traumatic amnesia.

is the rarest type of cerebral palsy and involves the entire body

Ataxic CP

Epilepsy: Clinical Features Loss of muscle tone

Atonic

Angelman Syndrome: Diagnosis

Based on both clinical features and on currently available genetic information. This syndrome is caused by a variety of genetic mechanisms involving chromosome 15; Clinical diagnosis is difficult in the first 2-3 years of life due to other conditions and children may be initially misdiagnosed because conditions like autism and cerebral palsy have similar presentations in early years.

Spinal Cord Injury: Clinical features Secondary issues related to SCI in children

Because of loss of sensorimotor control below the level of the lesion, secondary complications can develop over time such as hip instability and other changes to joint structure and integrity. A child is also put at risk for the development of contractures, osteoporosis, and increased risk of hip fracture. The child who is unable to voluntarily control their bowel and bladder function will also need assistance managing these routines. The child can also exhibit a loss of sensory awareness below the level of the lesion, this can include tactile, proprioception, and pressure senses. A child and family will need to learn how to maintain and monitor skin integrity. Psychosocial considerations may include aspects of adjustment to how the injury may have occurred, body image as a child ages, and feelings of control over their own environment.

Muscular Dystrophy: Clinical features Which MD is considered a milder type of Duchenne MD?

Becker MD

Rett Syndrome: Clinical Features Describe Stage 4: Late motor deterioration

Can last for years or decades and is characterized by REDUCED MOBILITY

Traumatic Brain Injury: Clinical features Following a TBI, secondary problems can occur. These can be classified by physical, cognitive, social-emotional impairments Social-Emotional

Children with TBI may have difficulties with self-regulation, frustration tolerance, behavior, and social participation

Down Syndrome: Diagnostic test for newborns

Chromosomal Karyotype: Blood test used to analyze child's chromosomes to confirm diagnosis. If there is an extra chromosome 21 in all or some cells, the diagnosis is Down syndrome.

Fragile X Syndrome: Etiology/Pathophysiology

Chromosomal disorder that results from a mutation in a single gene, the (FXMR1) gene and turns the gene off that contains instructions for protein FMPR = (role in synaptic function) Nearly all cases of FXS are caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is expanded within the FMR1 gene.

Epilepsy: Clinical Features Sustained rhythmical movement

Clonic

Rett Syndrome: Diagnosis

Confirmed through a combination of genetic testing and identification of the primary signs in the condition: 1. Partial or complete loss of purposeful hand skill 2. Partial or complete loss of spoken language 3. Gait abnormalities 4. Stereotypic hand movements such as wringing, clapping, or rubbing

Spina Bifida: Description

Congenital disorder caused by the incomplete closing of the embryonic neural tube, resulting in a spinal cord malformation. Spina bifida consists of several types of conditions and results in a wide range of symptoms from being asymptomatic to causing severe neurological dysfunction and complications.

Muscular Dystrophy: Laboratory Studies

Creatine phosphokinase (CPK) determination is the most specific test for muscular dystrophy (MD).

Rett Syndrome: Impact on Occupational Performance

Decreased ability to purposefully use their hands, gait abnormalities, and intellectual disability. An individual with Rett syndrome may have difficulty with ADLs and IADLs including dressing, grooming, hygiene, eating, mobility, transfers, and functional communication. Children with Rett syndrome benefit from OT to address occupational performance as their needs and abilities change.

Fragile X Syndrome: Clinical features/characteristics

Delayed development of speech and language by age 2 Anxiety Attention deficit disorder Approximately 30% of individuals with FXS have features of autism spectrum disorders Seizures Sensory sensitivity Hyperactive behaviors (fidgeting or impulsive actions) Low muscle tone (DAAASSHL)

Traumatic Brain Injury: Prognosis

Dependent on many factors including the variety of the neuropathological effects present related to severity of the injury as well as individual and population factors. There can be a persistent assumption that because children are still developing, they have greater potential for recovery compared to an adult. However, it is important to realize that although the clinical features in children and adults are the same the functional impact can be very different. significant emotional, functional, behavior; as well as social difficulties may remain for many years following the injury

Rett Syndrome: Outcome/ prognosis

Despite the range of symptoms, most individuals with Rett syndrome continue to live well into middle age and beyond. Medical precautions include management of seizures, as well as respiratory and cardiac irregularities that may require intervention.

Angelman Syndrome: Clinical features/ Problems of AS Consistent in 100% of cases

Developmental delay · Functionally severe Movement of balance disorder · Usually ataxia of gait and/or tremulous movements of limbs · movement disorder can be mild. May not appear as classic ataxia but can be forward lurching, unsteadiness, clumsiness, or quick jerky motions. Behavioral uniqueness · frequent laughter/smiling · apparent happy demeanor · easily excitable personality, often with uplifted hand flapping or waving movements Speech impairment · none or minimal use of words receptive & non-verbal communication skills higher than verbal ones DMBS

Prader-Willi Syndrome: Diagnosis

Diagnosis is prompted by physical symptoms in the newborn, particularly poor muscle tone and difficulties with sucking and feeding. Genetic testing can confirm the diagnosis of PWS. Most distinguishing symptom before age 3 is hypotonia

Down Syndrome: Diagnosis

Diagnosis is suggested by physical anomalies and abnormal development and is confirmed by karyotype analysis.

Fragile X Syndrome: Impact on Occupational Performance

Difficulty performing ADLs and IADLs due to developmental delays and intellectual disability and many require ongoing support their entire life.

Muscular Dystrophy: Incidence Duchenne: Becker:

Duchenne MD (sex-linked)= 1 case per 3500 live male births. Becker MD= 1 case per 18,500 live male births.

Muscular Dystrophy: Clinical features Which MDs are sex-linked?

Duchenne muscular dystrophy Becker MD Emery-Dreifuss MD DBE

Epilepsy: Diagnosis This test is the most common used in diagnosing epilepsy. They can detect the number the presence of discharging neurons causing the seizure.

EEG (electroencephalogram)

Prader-Willi Syndrome: Outcome/ Prognosis

Early diagnosis and treatment can improve quality of life, although most individuals will need specialized care and supervision throughout their lives.

Muscular Dystrophy: Other tests for diagnosis

Electrocardiography (ECG) are often utilized to assess and monitor cardiac function. Pulmonary function tests (PFTs), including an analysis of arterial blood gases, and a hematologic workup are necessary as part of the preoperative workup.

Muscular Dystrophy: Imaging Studies

Electromyography (EMG) is a diagnostic procedure to assess the muscles and motor neurons. However, this finding is common with all myopathic processes and does not specifically identify MDs. Ultrasonography is becoming a more prevalent imaging test when there is suspicion of MD. Even in the early stages of MD, ultrasonography shows changes in echogenicity (the ability to bounce an echo, the return signal in ultrasound examinations).

Epilepsy: Definition

Epilepsy, also known as seizure disorder, is a central nervous system disorder which causes brain activity to become abnormal. This can result in periods of abnormal behavior, sensations, loss of awareness, as well as seizures.

Rett Syndrome: Clinical Features What gender does it involve almost exclusively and what other condition does this condition have similar behaviors in the early stages?

FEMALES Autistic-like behaviors

Spina Bifida: Etiology/Pathophysiology

Failure of the spinal portion of the neural tube fails to develop or close properly because the ectoderm fails to organize; Causes defects in the spinal cord and the vertebrae of the spine

Epilepsy: Diagnosis

Focuses on verifying the presence of seizures while working to determine any identifiable cause of the seizures Range of tests may be used including: 1. EEG 2. CT scan 3. MRI 4. PET 5. Neuropsychological tests *An accurate diagnosis of where the seizures begin in the brain and the type of seizure occurring is needed to find the most effective treatment.

Epilepsy: Clinical Features Name this type of seizure: seizure that has tonic (incr muscle tone) and clonic (sustained rhythmical movement) motor symptoms (previously called grand mal), usually begins with muscle rigidity, air being forced through vocal chords resulting in crying/ groaning sounds, person will lose consciousness and fall to ground, after the tonic phase ends the clonic phase starts and arms/ legs jerk rapidly and rhythmically bending at elbows, hips, and knees, may lose control of bladder/ bowel as body relaxes, awareness slowly returns, lasts 1-3 minutes

Generalized tonic-clinic seizures Seizure > 5 mins = medical attention

Rett Syndrome: Clinical Features Describe Stage 1: Early onset

Generally begins between 16-18 months

Angelman Syndrome: Outcomes/prognosis

In general, an adult will have no less and no more health problems than those faced by the average adult although they will often need lifelong supportive care. Scoliosis has been a problem associated with adults diagnosed with AS, but early orthopedic management and surgical corrections can be utilized to sustain stabilization and prevent further disability Obesity= potentially develop as age

Down Syndrome: Outcomes/prognosis

In recent decades the life expectancy has increased although people still have a shorter lifespan than average; about 60 years

Muscular Dystrophy: Prognosis

Incurable and life expectancy varies depending on the type Duchenne life expectancy is reduced to about 30 due to cardiopulmonary failure

Fetal Alcohol Syndrome: Prognosis

It is recognized that children who are diagnosed before the age of six will benefit from early intervention services. Children with FAS are at risk for secondary disabilities as they age including mental health issues, disruptive school behaviors, and potential for legal issues if behaviors include substance abuse or inappropriate sexual behavior.

Fetal Alcohol Syndrome: Impact on Occupational Performance

Learning, behavior, and developmental impairments mean the children can have many challenges in occupational performance. Developmental skills are affected which will impact self-care, play, social interaction, and education. Behavior issues experienced by children with FAS will also impact occupational performance. Children with FAS may need lifetime support services.

Fragile X Syndrome: Phenotypes (mostly seen in males and 50% female)

Long and narrow face Large ears Unusually flexible fingers Prominent jaw and forehead Flat feet Macroorchidism, or abnormally enlarged testes, after puberty in males LLUPFM *More apparent as they age

Cerebral Palsy: Medical Management

Management of spasticity is often a key focus and may be done through non-surgical and surgical approaches; baclofen for spasticity, splints, surgery to improve mobility, posture, range of motion to improve the child's function , PT, OT, and adaptive equipment

Down Syndrome: Impact on Occupational Performance

May impact -development Independently perform -self-care tasks -ADLs Skills required for play, education, instrumental ADLs and leisure skills may also be affected.

Fragile X Syndrome: Medical management

Medical intervention may be required to address any clinical issues the child experiences such as seizures in addition to routine pediatric care. Some children with Fragile X have few health issues other than typical pediatric conditions, some need ongoing medical care due to difficulty feeding, swallowing, or reflux.

Cerebral Palsy: Etiology/Pathophysiology

Most children (80 - 90%) diagnosed with CP have congenital cerebral palsy, which is, the injury to the brain occurred prior to their birth, although the specific cause is not often known. Furthermore, the presence of risk factors does not always result in a diagnosis of cerebral palsy.

Rett Syndrome: Etiology/Pathophysiology

Mutations in the MeCP2 gene, found on the X chromosome. More prominent in females The MeCP2 gene contains instructions for the synthesis of a protein called methyl cytosine binding protein 2, which acts as one of the many biochemical switches that tell other genes when to turn on and off and stop producing their own unique proteins.

Epilepsy: Clinical Features Brief motor twitching

Myoclonus

Rett Syndrome: Definition/Description

Neurological and developmental genetic disorder that occurs mostly in females. Infants with Rett syndrome seem to grow and develop normally at first, but then they stop developing and lose skills in different stages of the disease over a lifetime. It is characterized by loss of hand function, loss of language skills, gait abnormalities, seizures, and intellectual disability, and loss of developmental skills followed by stabilization of the decreased skills.

Spina Bifida: Prognosis

No cure for spina bifida and is not a progressive condition Secondary complications may develop and the health and activity level of the child will depend on the extent of the anomalies of the condition. -The prognosis is worse for children with higher cord level involvement or who have hydrocephalus or other associated congenital abnormalities

Spina Bifida: Impact on Occupational Performance

Physical and cognitive impairments due to the neurological effect of the condition. The child may have muscle weakness or paralysis, atrophy of muscles, and loss of sensation below the lesion level. The child may also have difficulties performing gross-motor activities, such as rolling over, coming to a seated position, sitting without support, crawling, coming to a standing, and walking. They may also have learning difficulties in language, nonverbal reasoning, poor visual-spatial perception, poor discrimination perception, poor organization skills, difficulty with mathematical and abstract reasoning., attention deficit, and poor body awareness.

Fragile X syndrome: Diagnosis

Prenatal testing can be done to test for the FMR1 mutation using the amniotic fluid or Chorionic Villus Sampling allows health care providers to detect the mutated gene in the developing fetus. Diagnosis in children may not occur until developmental delays become apparent as the FXS phenotype is often not evident in infants and becomes more prominent as children mature

Spina Bifida: Diagnosis

Prenatally w/ ULTRASOUND High a-fetaprotein level in maternal serum Amnionic fluid If it is not diagnosed prenatally, then it will be evident after birth due to the presence of the external meningocele on the lower spine.

Cerebral Palsy: Clinical features What type of CP produces hemiplegia, diplegia or paraplegia, monoplegia, triplegia, or quadriplegia, depending on what part of the body is affected.

Pyramidal (Spastic) CP

Angelman Syndrome: Definition/ Description

Rare congenital neuro-genetic disorder caused by many different errors to chromosome 15. The condition presents with a distinct phenotype including a flat head, jerky movements, and bouts of laughter, resulting in it also being informally referred to as "Happy Puppet Syndrome"

Prader-Willi Syndrome: Definition/ Description

Rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome. These errors affect the child's endocrine system affecting their tone, growth, metabolism, and can result in life-threatening obesity in children. Prader= starts with P= PATERNAL chromosome

Name the condition: characterized by loss of hand function, loss of language skills, gait abnormalities, seizures, and intellectual disability, and loss of developmental skills followed by stabilization of the decreased skills.

Rett Syndrome

Angelman Syndrome: Impact on Occupational Performance

Self-care and activities of daily livings (ADLs). Delayed gross and fine motor skills may limit the child's ability to participate in daily activities. Behavior problems and speech impairment may affect the individual's ability to communicate with others and social participation. Individuals with AS may need to rely on their family or caregivers to assist them with ADL tasks across their lifespan.

Cerebral Palsy: Clinical features There are several different ways CP is classified - including (3)

Severity Location of the lesion Body affected

Epilepsy: Prognosis

Severity of the seizure disorder How controllable it is If it is associated with other conditions affects prognosis many can live a full healthy life

Muscular Dystrophy: Clinical features Becker MD

Sex-linked inheritance pattern Dystrophin is made but only partially functional Weakness may not begin until teen years—in shoulders, hips, with hypertrophic calves Course is milder, slower, and less predictable

Prader-Willi Syndrome: Clinical features/ Problems Name the phenotype associated w/ PWS

Short stature Poor weight gain in infancy Almond-shaped eyes Hypotonia Hypogonadism Cryptorchidism Small hands and feet Mild to moderate intellectual disability Behavior problems Obstructive sleep apnea High pain thresholdOsteoporosis Neonatal temperature instability Type 2 diabetes

Cerebral Palsy: Clinical features Mixed cerebral palsy

Some children have symptoms of more than one type of cerebral palsy. For example, spastic legs (symptoms of spastic diplegic CP) and problems with facial muscle control (symptoms of dyskinetic CP) may both develop. -Total body CP affects the entire body to some degree. Complications of cerebral palsy and other medical problems are more likely to develop when the entire body is involved rather than isolated parts. Total body CP may include any of the following: o Spastic quadriplegic CP o Dyskinetic CP o Ataxic CP

Traumatic Brain Injury Etiology

Some mechanism that damages the brain tissue and brain cellsIn children common causes are falls, motor vehicle accidents, and assaults closely associated with gender and age across the lifespan

Epilepsy: Clinical Features _______ _________ is occurring when a person experiences a seizure that lasts more than 10 minutes, or three seizures in a row without regaining consciousness.

Status epilepticus

Spina Bifida: Medical Management

Surgery: close tubes if leakage of CSF Prenatal surgery: if the presence of the neural tube defect is detected in utero (covering the myelomeningocele with multiple layers of the fetus's own tissue during the mother's pregnancy and may improve the outcome for the developing baby) Surgery: SHUNT to treat hydrocephalus

Epilepsy: Impact on Occupational Performance

The cognitive, psychosocial, and social consequences of disorder vary as the extent of the condition widely varies, depending on frequency and extent of control of the seizures. Having a seizure will have a significant impact on the child's occupational performance in many aspects. A child may experience difficulty with self-care, education, play, and social participation due to the seizure disorder or medication effects. Children may experience fatigue after a seizure which also interrupts their participation in occupations, and decreases quality of life.

Spina Bifida: Clinical Features Hydrocephalus

The defect in the spinal column or the presence of an Arnold Chiari malformation, there is a high risk (estimates of 80%) of increased cerebrospinal fluid in the ventricles of the brain because the flow of cerebrospinal fluid is affected. This condition is called hydrocephalus and increases intracranial pressure. Can lead to cognitive impairment

Angelman Syndrome: Etiology/Pathophysiology

There are several mutations or deletions that cause AS, but each possibility occurs in the gene Ube3a located on chromosome 15. Ube31= proteins perform a variety of different roles in the body plays a critical role in the normal development and function of the nervous system. The possible scenarios include: 1. Deletion of the maternal chromosome ("M" in Angel"M"an = Maternal) 2. Uniparental disomy (UPD). (PATERNAL) chromosomes 3. Imprinting defect in which the maternal chromosome 15 has a paternal pattern that turns off UBE3A 4. Mutation of the UBE3A gene from the maternally derived chromosome 15.

Fetal Alcohol Syndrome: Diagnosis

There is no single test to diagnose FAS and the diagnosis is made on the presence of anomalies associated with the syndrome. Neuroimaging is used to detect structural abnormalities in the brain that occur in FAS Other testing includes neurological and motor assessments, cognitive assessments (average IQ for children with FAS is 65), and developmental testing.

Fetal Alcohol Syndrome: Medical Management

There is no specific treatment for FAS and the condition is stable. Medical intervention may be needed for visual issues and optic surgeries may be recommended for symptoms like strabismus. Other medical interventions may be needed to address cardiac abnormalities if they are present. Medications may be used for symptom management related to behavior challenges. *Comprehensive therapy and educational services are needed to support development, functioning, and educational needs.

Cerebral Palsy: Diagnosis

There is not a definitive test that will diagnose a child with cerebral palsy. CP often does not appear to be evident during the first few months of life, but it is possible to diagnose it at 6 months corrected age. Nearly all cases can be diagnosed by 18 months. The goal is to diagnose CP as early as possible so the child can benefit from early intervention. One of the key features of CP is the persistence of primitive reflexes

Epilepsy: Clinical Features Increase of muscle tone or rigidity

Tonic

Spinal Cord Injury: Etiology

Traumatic: sudden blow to the spine (cause a fracture, dislocation, crush or compression of one or more vertebrae). Non-traumatic: tumor or infection

Rett Syndrome: Medical management

Treatment is symptomatic for seizures, muscle stiffness, or problems with breathing, sleep, the GI tract, or the heart through various medications; therapy to support occupational performance

Spinal Cord Injury: Diagnostic tests

X-rays, CT scans or an MRI

Fragile X Syndrome: Definition/Description

a genetic condition that causes a range of developmental problems, particularly learning disabilities and cognitive impairment. Males are usually affected more severely than females.

Muscular Dystrophy: Description

a group of progressive muscle disorders caused by an abnormality in a muscle protein. The severity and prognosis of MD depends on the type of MD.

Cerebral Palsy: Diagnosis Among the primitive reflexes, a persistent ___ _____ _____ ______ and the ______ _________ response past 6 months of age are particularly helpful to diagnose CP.

asymmetric tonic neck reflex tonic labyrinthine

Cerebral Palsy: Etiology/Pathophysiology A child with CP may have other medical disorders, including

cognitive impairment, seizures; delayed growth and development; spinal deformities; impaired vision; hearing, or speech; drooling; incontinence; and abnormal physical sensations or perceptions.

Spinal Cord Injury: Definition/ Description

damage to any nerves at the end of the spinal cord (cauda equina) or any part of the spinal cord itself. It can result in permanent changes in sensation, strength, as well as other bodily functions below the injury site.

Spina Bifida: Incidence In 1998, grain products started being fortified with ____ _____ in an effort to reduce the incidence of neural tube defects. The CDC reports about a 35% reduction in children being born with neural tube deficits since this change was implemented which equates to about 1,300 births per year.

folic acid

Fetal Alcohol Syndrome: Definition.

is a condition that is part of a group of conditions called fetal alcohol spectrum disorders (FASD) that occur when a fetus is exposed to alcohol. FAS consists of physical, cognitive, and behavior challenges.

Spina Bifida: Clinical Features Children you may see with spina bifida can present very differently. Infants may be: Older children may present with:

lethargic, feed poorly, have delayed development, and oculomotor incoordination, in addition to lower extremity motor and sensory involvement. lower extremity motor and sensory impairment, bowel and bladder issues, worsening lower extremity and spinal deformity with growth and age, and are at risk for cognitive impairment (due to presence of hydrocephalus).

Spina Bifida: Etiology/Pathophysiology A myelomeningocele will appear as an external sac of tissue in the ________ or ______ region.

lumbar, sacral The anatomic level of the myelomeningocele sac roughly correlates with the patient's neurologic, motor, and sensory deficits.

Spina Bifida: Etiology/Pathophysiology A ________ alone may cause no neurological problems if the cord is confined to the vertebral canal and may only be incidentally discovered on an MRI for another reason.

meningocele

Spina Bifida: Etiology/Pathophysiology If vertebral arches fail to close, a cyst may form called a

meningocele

Down Syndrome: Clinical features/characteristics

most frequent genetic cause of intellectual disability; common features include microcephaly, short stature, and distinctive phenotype like brush field spots and hypotonia

Spina Bifida: Etiology/Pathophysiology If neural tissue extends into the meningocele, it is called a ___________

myelomeningocele This results in an open lesion or sac that contains dysplastic spinal cord, nerve roots, meninges, vertebral bodies, and skin

Diagnosis of CP is often made using a combination of __________ and _______ ________ _________

neuroimaging standardized motor assessment.

Muscular Dystrophy: Other general features of MD Because MD progresses from ________ to _______ in many types of MD, children with MD will have distinct movement patterns as they will compensate for the proximal weakness through distal function if that function is present (eventually the distal strength will diminish as well).

proximal to distal

Spina Bifida: Clinical Features Tethered cord syndrome

spinal cord become fastened to an immovable structure with associated loss of muscle function

Spina Bifida: Etiology/Pathophysiology It is important to understand that spina bifida is one type of neural tube defects that presents as a _______ _________

spinal manifestation

Spina Bifida: Clinical Features Arnold Chiari malformation

the cerebellum extends into the spinal column through the foreman magnum.

Cerebral Palsy: Etiology/Pathophysiology Mothers with ________ problems, ___________ ___________, or ________ have a slightly higher risk of having a child with CP.

thyroid intellectual disability seizures

Angelman Syndrome: Typical signs/developing stages of AS Seizures

· 90% of AS individuals had/have seizures <25% develop seizure before 12 months

Cerebral Palsy: Clinical features Pyramidal (Spastic) CP

· A person with Pyramidal CP develops spasticity, or an involuntary, increased muscle tone. (The child will have difficulty controlling movements, poor coordination and balance, and may have difficulty talking and eating). · Spasticity is a state of resistance to passive range of motion; this resistance increases with increasing speed of that movement · Pyramidal, or spastic, CP occur in more than 70 - 80% of cases.

Fetal Alcohol Syndrome: Many children with FAS present with a distinct physical traits, or phenotype. This Includes:

· A small head · Eyelid abnormalities including small-shaped eyes, short palpebral fissures (eyelid openings), epicanthal folds (larger skin folds of medial corner of the eye), telecanthus (wide-set eyes), or blepharoptosis (droopy eyelids) · Abnormalities of the anterior eye - the cornea or lens, including cataract formation · Abnormalities of the posterior eye - the optic nerve · Eye movement disorders such as nystagmus (shaking of the eyes that can affect acuity) and strabismus (poor alignment of the eyes) · Refractive disorders and amblyopia (one eye has better vision than the other) · A thin upper lip · A wide, flat philtrum (the vertical groove between the upper lip and nose) · Neurocognitive effects including developmental delays, cognitive impairments, and behavioral disorders, sensory processing difficulties, social difficulties, attention deficits and hyperactivity. It is important to recognize the behavior disorders in children with FAS can be severe and lead to secondary complications of the condition. · Some children with FAS are increased risk for cardiac abnormalities

Spinal Cord Injury: Clinical features American Spinal Injury Association (ASIA) classifies spinal cord injuries by completeness of injury (meaning the extent of motor or sensory function below the level of injury with the following classifications:

· ASIA A-Complete: No motor or sensory function is preserved in sacral segments S4-S5 · ASIA B-Incomplete: Sensory function but not motor function is preserved below the neurological level and includes the sacral segments S4-S5. · ASIA C-Incomplete: Motor function is preserved below the neurological level, and more than half of the key muscles below the neurological level have a muscle grade less than 3. · ASIA D-Incomplete: Motor function is preserved below the neurological level, and at least half of the key muscles below the neurological level have a muscle grade of 3 or more. · ASIA E-Normal: Motor and sensory function are normal.

Traumatic Brain Injury: Clinical features Mild

· Accounts for 80% of all brain injuries · Symptoms: headaches, dizziness, fatigue, visual disturbance, memory and executive function difficulties for first week · Loss of consciousness of <30 minutes · Posttraumatic amnesia (period of memory loss following injury) of <24 hours · Disorientation and confusion · Pediatric Glasgow Coma Scale (PGCS) score of 13 to 15 · May be determined to be a concussion · May have difficulty with higher level cognitive skills, attention · May be no motor signs present

Traumatic Brain Injury: Clinical features Following a TBI, secondary problems can occur. These can be classified by physical, cognitive, social-emotional impairments Cognitive

· All cognitive skills are at risk of being affected including o Memory o Problem solving o Judgement o Attention o Initiation o Impulsiveness o Information processing speed o Perceptual skills o Language

Early Signs of CP Toddlers/Children:

· Although the brain of toddlers/children with CP remains injured, the injury does not progress as they develop · Depending on level of severity of CP, children may experience difficulties with physical development such as: not sitting by 9 months, not walking by 12-18 months, and not having the ability to speak simple sentences by 24 months.

Angelman Syndrome: Typical signs/developing stages of AS Gross Motor Milestones

· Delayed · Sitting only occurring after 12 months Walking delayed to ages 3 to 5 years

Angelman Syndrome: Clinical features/ Problems of AS Associated (20-80%)

· Flat occiput—posterior flattening of the skull · Occipital groove · Protruding tongue · Swallowing disorders · Feeding problems · Trunk hypotonic (low muscle tone) during infancy · Prognathia—jaw protrudes · Excessive chewing or mouthing behaviors · Strabismus

Angelman Syndrome: Typical signs/developing stages of AS Infancy

· Hyperkinetic movements (increase in muscular activity that can result in excessive abnormal movements, excessive normal movements, or a combination of both) of the trunk and limbs Uncontrollable drooling= persistent problem

Angelman Syndrome: Typical signs/developing stages of AS Speech & Language

· Infants rarely coo or babble · Single words, "mama, dada" may develop around 10 to 18 months—used infrequently & with no symbolic meaning · By 2-3 years of age it is obvious speech is severely delayed By 3 years of age, higher functioning children initiate some type of non-verbal language

Traumatic Brain Injury: Etiology Open head injuries

· Involve penetration of scalp and skull (involving bullets or sharp objects) · A skull fracture with overlying laceration due to severe blunt force is also considered an open injury · Results in a focal injury to brain tissue, meaning that the pattern of damage is concentrated to the specific region that can be correlated to the mechanism of injury

Traumatic Brain Injury: Clinical features Moderate

· Loss of consciousness of 30 minutes to 24 hours · Posttraumatic amnesia of 24 hours to 7 days · PGCS score of 9 to 12 · Will often have persistent cognitive and social-emotional challenges that have a long-term impact on education · May have motor signs that persist

Traumatic Brain Injury: Clinical features Severe

· Loss of consciousness of more than 24 hours · Posttraumatic amnesia (period of memory loss following injury) of more than 7 days · PGCS score of 3 to 8 · Presence of reflexes · Motor signs Recovery is variable

Fetal Alcohol Syndrome: Diagnosis Specific FAS diagnostic criteria include categories with and without confirmed prenatal alcohol exposure. These include:

· Low birth weight for gestational age · Evidence of CNS abnormalities · Characteristic facial anomalies · Evidence of behavior and cognitive abnormalities such lower IQ, learning disabilities, poor impulse control, poor attention, poor social skills, or poor language skills.

Early Signs of CP Babies:

· Low muscle tone (babies feel "floppy" when picked up) · Unable to hold up their own head while lying on their stomach or in a supported sitting position · Muscle spams/stiffness · Poor muscle control, reflexes and posture · Delayed development (can't sit up or independently roll over by 6 months) · Feeding/swallowing difficulties · Show a preference for using one side of their body

Traumatic Brain Injury: Etiology Closed head injuries

· Occur when the head is struck, when the strikes an object, or when it's shaken violently causing rapid brain acceleration and deceleration o This results in a type of injury called Diffuse Axonal Injury (DAI), also known as traumatic axonal injury (TAI). The rapid deceleration of the brain results in axonal shearing in the brain which causes widespread, hemorrhagic lesions · Often results in a more diffuse injury, meaning the pattern of damage is more distributed · This is the mechanism of injury that occurs in motor vehicle accidents and shaken baby syndrome

Traumatic Brain Injury: Clinical features Following a TBI, secondary problems can occur. These can be classified by physical, cognitive, social-emotional impairments Physical

· Presence of reflexes, particularly in severe brain injury · Changes in ability to regulate tone (may be increased to include spasticity, decreased, or mixed) · Impairments in motor control. Contralateral hemiplegia may be present · Impairments in coordination including fine and gross motor · Impairments in balance and gait · Seizures (estimates range between 5-45% of children with TBI will experience subsequent seizures, although the root cause is not entirely understood)

Angelman Syndrome: Typical signs/developing stages of AS Sexuality

· Puberty delayed between 1 to 3 years · Post-pubertal females are fertile (pregnancy has been reported)

Cerebral Palsy: Clinical features Athetoid (hyperkinetic) CP

· are defined as slow, writhing, involuntary movements of the proximal extremities and trunk (athetoid movement), which are often activated by attempts of voluntary movement or by excitement. · Abrupt, jerky, distal movements (choreic movements) may also occur. · Movements increase with emotional tension and disappear during sleep · Dysarthria may be severe (slurred or slow speech that can be difficult to understand).