Genetic Disorders Chapter 8

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Musculoskeletal problems to be associated with Cri_du_Chat include

-Clubfeet -Hip Dislocation -Joint Hypermobility -Scoliosis *LOW muscle tone= musculoskeletal alignment problems may occur

Describe a child's movements with Cri-Du-chat

Laborious and inconsistent *gravity is an enemy *postural control is difficult because of the low tone

This is a wearable exoskeleton that assists a child to lift the arms and encourages reaching behavior

Playskin lift

Define behavioral phenotype

Profile of behavior, cognition, or personality that represents a component of the overall pattern seen in many or most individuals with a particular condition or syndrome

In type 1 SMA, motor weakness progresses ____ and death results from respiratory compromise within the first __ years of life

Progresses rapidly ; 2 years

What is the prestage of Rett Syndrome and when does it decline

The child's development appears normal and this is the prestage that lasts 6 months -Followed by 4 stages of decline

What are the general characteristics of someone with OI

-"brittle bones" -Short Stature -Bowing of Long Bones -Ligamentous joint laxity -Kyphosis -Scoliosis

Surgical procedures that have been used to combat the progressive effects of DMD are

-Achilles Tendon Lengthening -TFL Fasciotomy -Tendon Transfers -Tenotomies

What does exercise improve in CF patients

-Airway clearance -Delays decline in pulmonary function -Delays onset of Dyspnea -Prevents decrease in bone density

A specific gene defect is inherited in what 3 different ways

-Autosomal Dominant Trait -Autosomal recessive trait -Sex linked trait; abnormal gene is carried on the X Chromsomes

Examples of autosomal recessive disorders

-CF -Phenylketonuria -3 types of SMA *SMA - most people died; typically 2 years

a child with AMC has what 2 major goals for PT

-Functional movement -Maintenance of ROM *stretching 3-5X a day and held for 20-30 sec at the end of range

What systems does CF involve

-Gastrointestinal -Reproductive -Sweat Glands -Respiratory

What are the symptoms of AAI

-Hyperreflexia -Clonus -Babinskis sign -Torticollis -increased loss of strength -Sensory changes -Loss of bowel or bladder -Decrease in motor skills

Children with SMA exhibit what

-Hypotonia of peripheral -Weakness -Normal intelligence

What are the cohen facial features

-Hypotonic appearance -Thick hair and eyebrows -Long eyelashes -Smooth or short philtrum -Broad nasal tip -wave shaped palpebral fissures

List the characteristics of a child with down syndrome

-Hypotonicity -Joint Hypermobility -Upwardly slanting epicanthal folds -Flat nasal bridge and facial profile *small oral cavity that makes the tongue seem protruded

Interventions with children who have PWS/AS should be directed toward

-Increasing muscle strength -Aerobic Endurance -Postural Control -Movement efficiency -function -respiration to manage obesity and minimize cardiovascular risk factors and osteoporosis

What are clinical characteristics of Cri-Du-Chat

-Microcephaly; diagnosed when the head circumference is less than third percentile -Widely spaced eyes -Profound ID *Cat cry is only present in infancy and the result of laryngeal malformation

What 2 causes can fetal akinesia have

-Myopathic -Neuropathic

Visual impairments in children with DS include

-Nearsightedness (myopia) -Cataracts -Crossing of the eyes (Esotropia) -Nystagmus -Astigmatisim

Features of PWS

-Obesity -Underdeveloped gonads -Short Stature -Hypotonia -mild to moderate ID *Become obsessed with food at 2 years old = hyperphagia

What are some musculoskeletal manifestations that may occur in those with DS

-Pes Planus -Thoracolumbar scoliosis -Patellar Dislocation -Possible atlantoaxial instability (AAI)

Features of AS

-Significantly delayed development -ID -Ataxia -Severe Speech Problems -Progressive Microcephaly *delays not apparent until 6-12 months

How are PT needs determined in children with SMA

-Specific type of SMA -Functional limitations -age of the child

key muscles to target in children with DMD if exercise is going to be used to treat weakness includes

-The abdominals -Hip Extensors / abductors -Knee Extensors *Triceps and Scap Stabilizers in the UE

How do you diagnose Cohens Syndrome

-basis of molecular genetic testing and the presence of 6 of the 8 cardinal features: -Retinal dystrophy & High Myopia -Microcephaly -Developmental delay -joint hypermobility -typical cohen syndrome facial features -Truncal obesity with slender extremities -Overly sociable behaviors -Neutropenia

Fragile X connective tissue involvement can include ?

-joint hypermobility -flat feed (pes planus) -Inguinal hernia -Pectus excavatum -mitral valve prolapse

What makes BMD different from DMD

-later onset -slower progression with longer life expectancy -less elevation of creatine kinase levels -Less destruction of muscle fibers on biopsy -Lower incidence of ID

Behavior characteristics of FXS include

-short attention -impulsivity -tactile defensiveness -hyperactivity -preservation in speech and motor action

Strengthening what specific muscles in the upper body can assist with respiration

-shoulder girdle -Chest Wall Muscles: -Pec Major/Minor -intercostals -Serratus -Erector Spinae -Rhomboids -Latissimus Dorsi -Abdominals

Chromosome abnormalities include

-trisomies; 3 of a particular chromosome are present instead of the usual 2 -sex chromosome abnormalities; there is an absence or addition of one sex chromosome -partial deletions; PWS and cri-du-chat

What are the first 4 types of classification scheme for OI ; they are all inherited as an autosomal dominant trait

1 - Mild to moderate fragility; Mildest; Community ambulation 2- In uterine fx; Most Severe (perinatal lethal); Nonambulation 3-Progressive Deformities; Moderately severe; Exercise Walking 4-Mild to moderate deformity, short stature; more severe than 1; Household/Community Ambulation

What is the % of the population of the US that has psychomotor or ID

1-3%

In children with AMC when is ambulation typically achieved

18 months *any surgery's that need to occur should after the child is stronger and wants to walk around 12 months

The standing goal for a 1 year old child is how long a day

2 hours

how long should walking be done in a child with DMD

2-3 hours a day

List autosomes, chromosomes, sex chromosome, and reproductive cells

22 - autosomes 44 - chromosomes 2 - sex chromosomes *reproductive cells contain 23 chromosomes (22 auto and 1 X/Y Chromosome)

How long does it take to elicit behavioral changes in habitual physical activity

6 months or more

Life expectancy of those with DS

60 years *15-20% higher chance of acquiring leukemia in their first 3 yrs of life *Live past 40 yrs develops pathological sings of Alzheimer's *Live past 65 yrs have signs of dementia

To be diagnosed with an ID the IQ must be

70-75 or below *DS children range 25-50

Defined by the presence of contractures in two or more body areas; is a nonprogressive neuromuscular syndrome *The gene that cases the neuropathic form is found on chromosome 5; distal for hands and feet is 9

AMC - arthrogryposis multiplex congenita *not all cases have a genetic origin

In a full blown mutation of Fragile X Syndrome how much FMRP is produced

Almost none *The less FMRP produced the more severe the ID is

FXS is the most common single gene defect associated with what other disorder

Autism Spectrum Disorder

How is CF diagnosed

Basis of a positive sweat chloride test >> than 60mEq/L indicate CF

This disorder has an onset of symptoms between 5 and 10 years of age ; is an X-linked dystrophy and is the milder form of DMD

Becker Muscular dystrophy - BMD

This is an autosomal recessive disorder of the exocrine glands that is caused by a defect on chromosome 7 -Is the most lethal genetic disease in white patients

CF- Cystic Fibrosis *New born screening mandated in every state

This is a rare autosomal recessive cause of hypotonia in children

Cohen Syndrome

Elevated levels of what are often found in the blood as a result of the breakdown of muscle in those with DMD

Creatine Kinase *measure of the amount of muscle fiber loss ; Made by a muscle biopsy

This syndrome is the result of the short arm of chromosome 5 being deleted

Cri-Du-Chat "Cat Cry" *affects the nervous system resulting in ID

This syndrome has children who exhibit the result of intrauterine growth retardation by being small for their gestational age

Cru-Di-Chat

This is an X-linked recessive trait that is manifested only in boys -2/3 of these cases are inherited where 1/3 results from spontaneous mutation

DMD - Duchenne Muscular Dystrophy

Most common examples of X-Linked recessive disorders

DMD and hemophilia *FXS is the most common that causes ID in males *Rett syndrome in females

What are some developmental findings in those with DS

Delayed development and impaired motor control *feeding problems may be evident at birth and may require intervention

This is the best way to stabilize fractures that occur in the long weight bearing bones in children with OI

Intramedullary Rod Fixation

SMA type 1 infants rely on what to help them breathe

Diaphragm because their intercostals and neck accessory muscles are weak

This is the leading chromosomal cause of ID and the most frequently reported birth defect

Down syndrome *caused by a genetic imbalance resulting in the presence of an extra 21st chromosome or trisomy 21 in al or most of the body's cells

What should the water temp be set at when doing pool exercises with an OI child

Kept low because of the child's increased metabolism *sessions last only 20-30 minutes

What trimester of pregnancy has been identified as the most likely time for the primary insult to occur that produces AMC

First

This is the leading inherited cause of ID and is characterized by unusual fancies, poor coordination, a generalized decrease in muscle tone, and enlarged testes in male patients after puberty *Children may have a long narrow face with a prominent forehead, jaw, and ears

Fragile X Syndrome

What is chromosomal microarray analysis (CMA) used to discover

Genetic Causes of: -ID -Autism spectrum disorder -Developmental Delay -Multiple Congenital Anomalies

What's the difference between girls and boys with Fragile X syndrome

Girls do not typically present with dysmorphic features (often seen in the face) or connective tissue abnormalities *more likely to have normal intelligence but may have a learning disability

How is Rett syndrome characterized

ID -Ataxia -Growth Retardation *presents a failure of postnatal development caused by a mutation in the MECP2 gene

Failure to keep the body weight __ of the knee joint or ___ the hip joint results in a loss of the ability to stand

In front of the knee; behind the hip

Children with knee ____contractures tend to require less orthotic control than those with knee ____ contractures

Knee extension ; knee flexion

Diffuse Osteoporosis results in

Multiple recurring fractures, weak muscles, joint laxity, and spinal/long bone deformities

AMC pathogenesis has been related to what 3 abnormalities associated with intrauterine movement restriction, but still has no exact known cause

Muscular, Nervous, Joint

The lack of this protein in DMD children prevents proper alignment of the contractile filaments during muscle contraction

Nebulin

What 2 systems are derived from the same primitive tissue

Nervous and Integumentary ; they are embryonically linked

How long does postural drainage treatment last

No more than 30 minutes

This is the first drug for SMA and was introduced in 2016

Nusinersen *designed to increase the amount of functional survival motor neuron protein

PWS is the most common genetic form of

Obesity

How do chromosomal abnormalities occur

One of the three ways -nondisjunction; cells divide unequally can cause DS -Deletion; part or all a chromosome is lost -Translocation; part of a chromosome becomes detached and reattaches to a completely different chromosome

This is an inherited connective tissue disorder secondary to a defect in collagen synethsis

Osteogenesis Imperfecta - OI

One genetic cause of ID that is preventable is the inborn error of metabolism called... -caused by an autosomal recessive trait that can be detected at birth by a simple blood test

PKU - Phenylketonuria

This syndrome is caused by a partial deletion of a chromosome; microdeletion of part of the long arm of chromosome 15

PWS = Prader Willi Syndrome / Angelman Syndrome *PWS = DAD *AD = MOM *more common than cri-du-chat

This is a powerful antiresorptive agent and has become the standard of care for children with moderate to severe OI

Pamidronate = a biophosphonate *studies done shows it helps increase bone density , decrease bone pain, and increase the ability of patients to ambulate

Death in those with BMD comes from

Pulmonary or cardiac failure *DMD is respiratory

How should ROM be performed in children with OI

ROM in a straight plane with emphasis placed on the shoulder and pelvic girdles

What is the main cause of death in children with SMA

Respiratory compromise

This is a neurodevelopmental disorder that almost exclusively affects females Does not progress

Rett syndrome

This is a progressive disease of the nervous system inherited as an autosomal recessive trait The anteriorhorn cell undergoes progressive degeneration

SMA - Spinal Muscular Atrophy

This type of SMA has a later onset of 6-12 months and is characterized by the onset of proximal weakness

SMA type 2

SMA is the ___most common fatal recessive genetic disorder seen in children after CF, and the ___ genetic cause of early death in infants and toddlers

Second most common ; leading genetic

Hearing loss in children with DS can occur

Sensorineural loss = 8th cranial nerve is damaged conductive loss = too much fluid in the middle ear; may cause delayed language development

Proximal muscle weakness is one of the major clinical features of DMD and is the most clearly apparent in what body structures

Shoulder and Pelvic girdles

Where should an assistant or caregiver provide manual assistance to help encourage head lifting and trunk activation when the assistant is helping the child into an upright position

Shoulders *traditional pull to sit maneuver is contraindicated

what happens at the ages of 3-5 in those with DMD

The child may begin to fall more often or experience difficulty in going up and down stairs *Gower Maneuver to move into a standing position from the floor

What are examples of sex chromosome errors

Turner syndrome and Klinefelter syndrome

What two types of OI would a PTA most likely treat? They are also the most common

Type 1 and 4

The earliest occurring and the most physical devastating form of SMA.

Type 1, acute infantile SMA *frog legged LE posture is evident at birth along with a weak cry

This type of SMA has an onset between 1-10 years and is the most mild Characteristics include proximal weakness in the hips, knees, and trunk

Type 3 SMA

What helps differentiate SMA type 3 from DMD

Type 3 SMA children have good UE strength

How is PWS/AS diagnosed

by the child's behavior and physical features ; confirmed by genetic testing

children with DMD lack the gene that produces the muscle protein ___ ; smooth muscle is also affected by the lack of this

dystrophin *absence of this protein weakens the cell membrane and eventually leads to the destruction of muscle fibers


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