Chapter 50: Nursing Care of the Child With an Alteration in Behavior, Cognition, Development, or Mental Health/Cognitive or Mental Health Disorder

A nurse is explaining the difference between anorexia nervosa and bulimia nervosa. The nurse knows the teaching was effective when the parents make which statement? "Anorexia refers to binge eating and purging by vomiting to prevent weight gain." "Individuals with bulimia have a normal weight or are slightly overweight." "Neither of these disorders is life threatening, only socially unacceptable." "Russell's sign is present in anorexia nervosa."

"Individuals with bulimia have a normal weight or are slightly overweight."

A pediatric client has recently been prescribed methylphenidate. The parent calls the office and insists the medication is not working. How will the nurse respond? "Perhaps another medication will be better for your child." "Tell me how you are administering the medication." "Your child's dosage may need to be increased." "Tell me why you believe the medication is not working."

"Tell me why you believe the medication is not working."

A 9-year-old mentally challenged client is hospitalized for gallbladder surgery. The client tells the nurse that she is afraid to be in the hospital and doesn't know anyone. Which is the best response by the nurse? "Don't be worried, you won't be here that long." "Describe to me a normal day at your house." "Have you told your mom that you are afraid?" "Would you like to draw or color?"

"Describe to me a normal day at your house."

The nurse is caring for a child with an eating disorder. Which is the priority treatment for the disorder? Develop a behavior modification plan Correct fluid and electrolyte imbalances Supervise and document food intake Monitor urine for presence of ketones

Correct fluid and electrolyte imbalances

When teaching parents of a child with encopresis, what would the nurse stress? Not punishing the child for encopresis Importance of cleaning the child immediately after an accident occurs Necessity for giving 4 to 6 tablespoons of bismuth subsalicylate per day Need for keeping the child close to bathroom facilities at all times

Not punishing the child for encopresis

A nurse is examining a 4-year-old child with various injuries in multiple places. Which site of injury would introduce suspicion of abuse? abdomen soles of feet palms of hands ears

abdomen

The nurse is examining a child with fetal alcohol spectrum disorder. Which assessment finding should the nurse expect? macrocephaly low nasal bridge with short upturned nose clubbing of fingers short philtrum with thick upper lip

low nasal bridge with short upturned nose

Which sign or symptom suggests depression in a child? repetitive behaviors fear of leaving the house somatic complaints and acting-out behavior inability to sit still for extended periods of time

somatic complaints and acting-out behavior

The nurse suspects sexual maltreatment in a 10-year-old girl. The nurse would assess which primary finding to help make this determination? regular menses Tanner stage 4 development vaginal discharge decreased skin turgor

vaginal discharge

Parents of a 36-month-old child confide in the clinic nurse that their child does not speak and spends hours staring at their ceiling fan. They are worried that their child may have autism spectrum disorder. Which question would be important for the nurse to ask the parents? "Does your child have siblings?" "Does your child come and hug you or seek comfort from you?" "Do you have trouble keeping child care providers for your child?" "Does your child already attend therapies such as speech therapy?"

"Does your child come and hug you or seek comfort from you?"

A parent expresses concern that the child has an autism spectrum disorder. The nurse obtains a health history of the symptoms to understand the parent's concern. Which question would the nurse ask first? "Does your child interact with you when playing?" "Does your child only eat the same food?" "Does your child respond to his or her name?" "Is your child happy when friends come to visit?"

"Does your child interact with you when playing?"

The parents of an adolescent are concerned about his mental health and have brought the adolescent into the physician's office for an evaluation. Which statements by the parents indicate that the child may have a mental health disorder? Select all that apply. "He has started sleeping for only 3 hours each night." "He has lost 10 pounds over the last 4 months." "He hangs out with the same kids he always has." "He used to be a straight-A student and now he's bringing home Cs and Ds." "He still enjoys playing a lot of baseball."

"He has started sleeping for only 3 hours each night." "He has lost 10 pounds over the last 4 months." "He used to be a straight-A student and now he's bringing home Cs and Ds."

A nurse in a residential foster home is caring for a 17-year-old client with oppositional defiant disorder. The client is using profanity and refusing to complete assigned chores. The nurse reminds the client that there are only 5 minutes in which to finish the chores. The client throws a dirty plate at the wall. How should the nurse respond? "You only have a few minutes to complete your chores." "I am sorry you are feeling so angry tonight but you must still complete your chores." "I find your language offensive and you need to stop talking that way." "If you calm down right now I will give you a few extra minutes to complete your chores."

"I am sorry you are feeling so angry tonight but you must still complete your chores."

A 3-year-old child and parent are in the office for a well visit. Which statement by the parent will the nurse highlight for the health care provider? "I have seen my child make progress in motor skills over the past several months." "I have noticed my child does not look at people when talking to them." "My child does not like to share with the neighborhood kids." "My child is now able to read at the same level as other classmates."

"I have noticed my child does not look at people when talking to them."

The child has been diagnosed with a mental health disorder and the child's parents are beginning to incorporate behavior management techniques. Which statements by the child's parent indicate the need for further education? Select all that apply. "I use a higher pitched voice when I communicate with her." "I am quick to point out the things that she does that make me crazy." "We have set some boundaries that are nonnegotiable." "We tell her when she is doing something well." "We're trying to make her accountable and responsible for her own behavior."

"I use a higher pitched voice when I communicate with her." "I am quick to point out the things that she does that make me crazy."

The nurse is providing teaching about the potential side effects of lithium for the parents of a girl recently diagnosed with bipolar disorder. Which statement by the parents indicates a need for additional teaching? "If she loses weight, then we know the medication is working." "She will probably tell us that she is hungrier than usual." "Tremors and nausea are common side effects." "She may notice an increase in urination"

"If she loses weight, then we know the medication is working."

The nursing educator has completed an educational program for new nurses on eating disorders in teenagers. Which statement by a participant would indicate a need for further education? "We need to allow the client to participate in developing the treatment plan." "Meal time should be structured but pleasant and relaxed without distractions." "If they refuse to eat, we need to sit with them and not let them leave the table until they do eat something." "We need to stay with them for at least 30 minutes after they eat so they don't try to vomit or dispose of the food."

"If they refuse to eat, we need to sit with them and not let them leave the table until they do eat something."

A 15-year-old adolescent has been evaluated and diagnosed with major depression. The health care provider has prescribed paroxetine, a selective serotonin reuptake inhibitor. The parent refuses to let the adolescent take the medicine because the parent has read about several suicides of adolescents who have been on this medicine. What nursing response is best? "Let's sit down and talk about your concerns." "Responses to medication, even if it is of the same drug classification, vary from person to person. Please do not assume that your adolescent will commit suicide." "Let's sit down with your adolescent and talk about your concerns." "It is important for your adolescent to start taking the medicine as soon as possible because it often takes several days or weeks to help the client feel better."

"Let's sit down with your adolescent and talk about your concerns."

A 9-year-old child with attention deficit hyperactivity disorder (ADHD) has been placed on the stimulant methylphenidate. The nurse knows that the teaching has been effective when the parents make which statement? "This drug will have an effect on our child in about 2 weeks." "We'll bring our child in every week to get blood levels drawn." "Our child knows to take this medication once every 12 hours." "Our child may have some side effects, like insomnia, headache, or stomach ache."

"Our child may have some side effects, like insomnia, headache, or stomach ache."

While interviewing an adolescent client with depression, the client reveals to the nurse that he has considered hurting himself. Which response by the nurse would be most appropriate? "Tell me exactly how you would hurt yourself." "Why would you want to hurt yourself." "Do your parents know that you want to hurt yourself?" "Have you discussed this with anyone else?"

"Tell me exactly how you would hurt yourself."

The parents of a 13-year-old tell the nurse that they have done some research and they think their daughter has conduct disorder. The parents report the child excessively argues with them, throws tantrums when not getting her way, and stays mad at them for long periods of time. How should the nurse respond? "The behavior you are describing sounds more like oppositional defiant disorder than conduct disorder." "I'm not really sure if the behavior you are describing fits the criteria for conduct disorder. Where did you do your research?" "I think you should let your physician do the diagnosing since they have the qualifications to do so." "It's hard to say with teenagers. They all seem to have some degree of behavior issues."

"The behavior you are describing sounds more like oppositional defiant disorder than conduct disorder."

A child is being evaluated for an autism spectrum disorder. The parents question how their child could possibly have "caught" this disorder. What information should the nurse provide? Select all that apply. "Autism spectrum disorders are thought to be the result of a bacterial infection that attacks the brain." "There are various theories about how it develops." "Most research point to immunizations given in infancy." "Some scientists support genetic connections." "Viral illness theories are supported by some researchers."

"There are various theories about how it develops." "Some scientists support genetic connections." "Viral illness theories are supported by some researchers."

An adolescent was caught sneaking liquor out of the family liquor cabinet at home. When confronted by the parents, the adolescent admits to have been drinking daily for the last 3 years. When the parents talk to the health care provider about how to intervene for their child, what information would be appropriate to share with them? Adolescents who receive counseling and treatment are less likely to recover from problem drinking than adults. Adolescents who have a family history of alcoholism may be more prone to problems with alcohol. Treatment for adolescents is easier than for adults because adolescents are still impressionable. Alcoholism can be addressed and people respond well regardless of how long a person has been drinking when the problem is identified.

Adolescents who have a family history of alcoholism may be more prone to problems with alcohol.

Which statement is true regarding the use of pharmacologic agents in children with anxiety disorders? Anxiolytics and selective serotonin reuptake inhibitors (SSRIs) have been shown to help reduce anxiety. Mood-stabilizing medications, including lithium, divalproex, and carbamazepine, are used for their calming and antiaggressive effects. Behavioral therapy, including imagery, self-talk, and cognitive techniques, is ineffective without the adjunctive use of pharmacologic agents. The use of pharmacologic agents is discouraged in children because of addictive or suicidal potential.

Anxiolytics and selective serotonin reuptake inhibitors (SSRIs) have been shown to help reduce anxiety.

An 11-year-old client has come to the school nurse more than 15 times reporting somatic symptoms during the first quarter of the school year. The client has subsequently left school after each visit. Which action by the school nurse would be most appropriate? Talk to the student's teacher. Make an unannounced home visit on a day the child is not in school. Contact the child's parents to discuss the situation. Keep a log of the child's attendance and continue to monitor the situation.

Contact the child's parents to discuss the situation.

The mother of a school-age child is distraught over the ongoing oppositional behavior demonstrated by the child at home and at school. Which nursing diagnosis should the nurse select as appropriate for the child and family? Risk for self-directed violence related to impulsivity Situational low self-esteem related to lack of successful coping strategies Impaired social interaction related to short attention span and distractibility Interrupted family processes related to inability of child to follow instructions

Interrupted family processes related to inability of child to follow instructions

A 6-year-old child with cognitive disabilities presents to the emergency department with the parents, having fallen and hit the head. How will the nurse need to modify care, based on the disabilities? Talk slowly and enunciate clearly. Provide clear instructions on what the nurse is going to do. Speak to the parents because the child will not be able to understand. Provide written instructions as well as oral instructions for the child.

Provide clear instructions on what the nurse is going to do.

The nurse is working on forming a contract with a hospitalized adolescent diagnosed with anorexia nervosa. Which information should the nurse prioritize with the client when making the contract? Remind the adolescent about the consequences of misbehavior. Stress to the client that he or she is in control of the outcome of the care. Encourage the caregivers to take responsibility for the adolescent. Reward the client after several days of successful behavior.

Stress to the client that he or she is in control of the outcome of the care.

While obtaining a health history, the nurse notices that the child has a history of pica. The nurse needs to be aware of which possible condition associated with pica? The child is autistic. The child could have a developmental or learning disability. The child has lack of supervision. The child has Down syndrome.

The child could have a developmental or learning disability.

What finding would suggest that a 5-year-old boy might have a developmental disorder? The child is not able to follow directions. The child must be supervised when brushing his teeth. The child knows what a dog and a cat sound like. The child has trouble with R, L, and Y sounds.

The child is not able to follow directions.

The nurse is working with school-aged children who are having enuresis or encopresis. What will most likely be the first step in this child's treatment? The child will be given medications. The child will be taken to a therapist. The child will have a complete physical exam. The child will be given a strict daily schedule.

The child will have a complete physical exam.

The nurse is assessing a 6-year-old with attention deficit/hyperactivity disorder (ADHD). The nurse observes the boy making repeated clicking noises and notes he has a slight grimace. The nurse recommends the boy receive further evaluation for: Tourette syndrome. Asperger syndrome. anxiety disorder. autism spectrum disorder.

Tourette syndrome.

The nurse is discussing the treatment for a child with attention deficit hyperactivity disorder (ADHD) with a group of school nurses. What would be an appropriate learning setting for a child with ADHD? a classroom with a plan of study that is followed each day a classroom with windows facing a playground a classroom in which children self-select their activities a classroom with tables and chairs rather than individual desks

a classroom with a plan of study that is followed each day

A nurse is working at a facility that provides care to children with developmental disabilities. Which role would be the nurse's most important? educator care provider advocate counselor

advocate

x A mother has presented with her 2 year old child. She states that the child was talking in earlier months but recently has "kind of withdrawn." The child does not interact with other children or adults much but does enjoy throwing a ball, retrieving it and throwing it again. The nurse realizes that the child needs further assessment for which disorder? attention deficit disorder autism spectrum disorder attention deficit hyperactivity disorder depression

autism spectrum disorder

Parents of a school-age child have begun a program of therapy that includes giving the child a token each time the child follows directions. Which theoretical framework provides the background for such a program? psychodynamic theory systems theory behavioral theory token economy theory

behavioral therapy

A nurse is assessing a child with suspected drug use. Which characteristics are related to an increased risk of substance use? Select all that apply. being a member of a family that has had another member who uses drugs being a member of an only-child family being a member of an abusive family having behavioral problems being a slow learner

being a member of a family that has had another member who uses drugs being a member of an abusive family having behavioral problems being a slow learner

The nurse is caring for a girl with anorexia who has been hospitalized with unstable vital signs and food refusal. The girl requires enteral nutrition. The nurse is alert for which complications that signal refeeding syndrome? cardiac arrhythmias, confusion, seizures orthostatic hypotension and hypothermia hypothermia and irregular pulse bradycardia with ectopy and seizures

cardiac arrhythmias, confusion, seizures

A nurse is working with a child who has been psychologically neglected by the parents. The nurse would anticipate which complication for this child? cognitive disabilities and growth retardation developmental delay and mental health issues rocking behaviors and loss of muscle tone social isolation and stuttering speech disorder

developmental delay and mental health issues

The nurse is talking with the parents of a child who has been identified as having a learning disability. The parents state that their child performs well on oral examinations but otherwise struggles on exams. The nurse is aware that the parents are describing which disorder? dyscalculia dyspraxia dysgraphia dyslexia

dyslexia

The football coach notices that one of the players has been more energetic and overly happy lately during practice. The player also got in fight with a teammate last week. The coach contacts the health care provider, concerned that the student is using anabolic steroids. What physical sign would the nurse advise the coach to be on the lookout for that would further validate the illicit drug use? headaches gynecomastia fainting extended periods of fatigue

gynecomastia

The 18-month-old toddler has been brought into the pediatrician's office by his parents. The nurse interviews the parents regarding the child's abilities. Which findings are warning signs that the toddler may have autism spectrum disorder? Select all that apply. has never "babbled" does not exhibit attempts to communicate by pointing to objects does not use any words does not speak in short sentences cannot stand on tiptoe

has never "babbled" does not exhibit attempts to communicate by pointing to objects does not use any words

A child is diagnosed with a mental health disorder and is receiving milieu therapy in an inpatient psychiatric setting. Which actions would the nurse likely include to maintain a therapeutic milieu? Select all that apply. making client rounds every 15 minutes role modeling appropriate interactions with others de-escalating aggressive or anxious behavior discouraging family involvement in the care instituting the liberal use of restraints

making client rounds every 15 minutes role modeling appropriate interactions with others de-escalating aggressive or anxious behavior

A child with an intellectual disability is evaluated and found to have an intelligence quotient (IQ) of 65. The nurse interprets this as reflecting which category of intellectual disability? Mild Moderate Severe Profound

mild

The nurse is recording vital signs in the client diagnosed with complications of anorexia nervosa. Which findings are consistent with the condition? Select all that apply. hyperthermia orthostatic hypotension weak pulse hypertension hypothermia

orthostatic hypotension weak pulse hypothermia

The pediatric nurse is working with a group of children in a mental health clinic. Which of these children would the nurse consider to have a moderate intellectual disability? unable to read at age 5 years limited self care adequate vocational skills to support self peak academic skills at elementary level

peak academic skills at elementary level

When teaching parents of adolescents about marijuana abuse, the nurse would include which reason for marijuana being the most frequently used illegal drug among teens? ease of access perceived lower risk than other drugs affordability peer pressure

perceived lower risk than other drugs

A child is suspected of having bipolar disorder. What would the nurse identify if the child was experiencing a manic episode? Select all that apply. pressured speech decreased sleep flamboyant behavior decreased energy loss of interest in activity

pressured speech decreased sleep flamboyant behavior

Which approach to drug education would be most effective for a group of school-age children? telling the children how expensive drugs can be to buy providing the children with strategies of how to refuse offers of drugs recommending the students tell the police when they see someone using drugs reporting the statistics of HIV exposure when sharing needles for drug injections

providing the children with strategies of how to refuse offers of drugs

Rumination disorder is a poorly understood condition of young children. This refers to: a habit of eating nonfood substances. excessive worrying about friendships. fear of moving objects. rechewing undigested food.

rechewing undigested food.

The nurse is working with a child diagnosed with encopresis. After a complete medical workup has been done, no organic cause has been found for the disorder. What follow-up will the nurse expect? referred for counseling started on methylphenidate administered antidiarrheal medications put on a high-calorie, high-protein diet

referred for counseling

An adolescent client has been diagnosed with bulimia nervosa. What does the nurse explain as the goal of treatment for this client? removing the stressors from life that caused this restoring nutritional balance and a healthy self-image helping the client return to a healthy weight for height family therapy as this is linked to family disturbances

restoring nutritional balance and a healthy self-image

A mother is telling the school nurse about her concerns regarding her 13-year-old daughter, who reports headaches. The child's grades have dropped, and the child is sleeping late and going to bed early every night. Which would the nurse identify as the priority? discussing the situation with the teacher scheduling an immediate history and physical examination asking the school psychologist to do psychometric testing calling for an appointment with a psychologist

scheduling an immediate history and physical examination

A nurse is providing an in-service program on child abuse (child mistreatment) for a group of newly hired nurses. When evaluating the effectiveness of the teaching, the nurse determines a need for additional review when the group identifies which as an indicator of possible child abuse (child mistreatment)? consistent delays in seeking treatment for the child's injuries frequent changes in history information with visits injuries that are inconsistent with the reported traumatic event sexual behavior that correlates with the child's developmental age

sexual behavior that correlates with the child's developmental age

After teaching the parents of a child with Tourette syndrome about motor and vocal tics, the nurse determines that the teaching was successful when the parents state: "If we get him focused on an activity, the tics will be less pronounced." "He can control the tics if he really concentrates on doing so." "Vocal tics are harder to control than the motor tics are." "Drugs are the primary method for controlling the symptoms."

"If we get him focused on an activity, the tics will be less pronounced."

The mother of a 13-year-old girl approaches the school nurse. She is concerned because her daughter does not seem happy since the family relocated from another state and started attending a new school. The mother is upset and wants to know what she can do for her daughter. What would be the most helpful information to gather from the mother? "What are the specific changes you have seen in your daughter since your move?" "Was your daughter happy in her previous school?" "How is the rest of the family reacting to the move?" "Do you think your daughter is depressed?"

"What are the specific changes you have seen in your daughter since your move?"

The father of a 14-year-old daughter reports she has been rebelling at home. The use of a contract for behaviors has been discussed. Which response from the father indicates the need for further discussion? "The establishment of rules for our home should be held with my daughter as soon as possible." "If my daughter becomes angry about established rules at home it is important I remain calm and consistent." "When my daughter exceeds expectations for her behavior she should be praised." "I can relax rules at home if she has had a bad day."

"I can relax rules at home if she has had a bad day."

A 15-year-old girl has been evaluated and diagnosed with major depression. The advanced practice mental health nurse has prescribed paroxetine, a selective serotonin reuptake inhibitor. The mother of the girl refuses to let her take the medicine because she has read about several suicides of teenagers who have been on this medicine. Which response by the nurse would be most appropriate in addressing the mother's concerns? "Let's sit down and talk about your concerns." "Much of the information you have read has been exaggerated." "Let's sit down with your daughter and talk about your concerns." "Your daughter needs to start taking the medicine as soon as possible because it can take several weeks to be effective."

"Let's sit down with your daughter and talk about your concerns."

An advance practice pediatric nurse practitioner (APPNP) is conducting a mental status examination with a 6-year-old girl. Which question would be most appropriate? "Isn't it fun to play with dolls?" "Why does your pink doll hit all the other dolls?" "What is the name of the president of the United States?" "Do you like the doll with pink hair the best or the doll with green hair?"

"Why does your pink doll hit all the other dolls?"

The mother of a 10-year-old boy with attention deficit hyperactivity disorder (ADHD) contacts the school nurse. She is upset because her son has been made to feel different by his peers because he has to visit the nurse's office for a lunchtime dose of medication. The boy is threatening to stop taking his medication. How should the nurse respond? "He will need to learn to ignore the children; he needs this medication." "I can have the teacher speak with the other children." "You may want to talk to your physician about an extended-release medication." "Remind him that his schoolwork may deteriorate."

"You may want to talk to your physician about an extended-release medication."

A nurse is providing care to an adolescent being treated for anorexia as an outpatient. The nurse is evaluating the adolescent's weight gain over the past week. The nurse determines that the adolescent is achieving the expected outcome when the adolescent shows a gain of how much for the week? 0.5 to 1 lb (0.27 to 0.45 kg) 1 to 2 lb (0.45 to 0.91 kg) 2 to 3 lb (0.91 to 1.37 kg) 3 to 4 lb (1.37 to 1.81 kg)

0.5 to 1 lb (0.27 to 0.45 kg)

A 17-year-old child has been admitted with complications of anorexia nervosa. What diagnostic tests can be anticipated in the plan of care/treatment? Select all that apply. complete blood cell count MRI CT scan metabolic panel chest X-ray

CBC and metabolic panel

A 10-year-old girl has been referred for evaluation due to difficulties integrating with her peers at her new school. The counselor believes she is at risk for situational low self-esteem due to problematic relationships with both family members and peers. What is the best approach? Remind her of the importance of good hygiene for better appearance. Explore the girl's feelings about changes in her body with the onset of puberty. Engage the girl in dialogue regarding feelings about self/personal appearance. Introduce the concept of accepting differences to reduce conflict.

Engage the girl in dialogue regarding feelings about self/personal appearance.

Which sign or symptom suggests that a 5-year-old child who does not maintain eye contact or speak may have autism spectrum disorder (ASD)? The child is highly active and inattentive. The child has a slight decrease in head circumference. Which sign or symptom suggests that a 5-year-old child who does not maintain eye contact or speak may have autism spectrum disorder (ASD)? The child is highly active and inattentive. The child has a slight decrease in head circumference. The child constantly pats his or her legs. The child has a long face and prominent jaw. The child has a long face and prominent jaw.

The child constantly pats his or her legs.

The nurse is observing a group of 2- and 3-year-olds in a play group. Which behavior noted in one of the children indicates to the nurse that the child may have autism spectrum disorder (ASD)? After another child takes a toy, the child cries and stomps his feet. A child playing in the kitchen area pretends to pour a glass of milk and repeats this over and over. While the other children are eating a snack, the child walks around the room feeling the walls and ignores the caregiver who offers him a snack. A child flips the light switch off and on until the caregiver asks her to stop and join the other children in playing.

While the other children are eating a snack, the child walks around the room feeling the walls and ignores the caregiver who offers him a snack.

A 16-year-old client is highly disruptive in class and has been in trouble at home. The parent recently found the adolescent torturing a cat. When questioned, the adolescent laughed. What condition might the client be suffering from? bipolar disorder conduct disorder Asperger syndrome Tourette syndrome

conduct disorder

What is the most difficult risk factor for a child to overcome related to substance abuse? peer pressure home environment where there is drug or alcohol abuse a diagnosis of ADD a dysfunctional family situation

home environment where there is drug or alcohol abuse

A parent suspects that their child has taken cocaine. What physical and psychological effects would the nurse tell the parents to monitor for in the child if this were true? Select all that apply. increased heart rate and respirations euphoria antisocial behavior hypotension and fainting increased body temperature

increased HR and RPM euphoria inc body temperature

A pediatric nurse is caring for a young client scheduled to undergo magnetic resonance imaging (MRI). Which information does this test provide? sharp anatomic detail and information about the chemistry of living tissue effective visualization of tumors, ventricles, brain tissue, and cysts deviations from the normal chromosome structure of 23 pairs (22 autosomal and 1 sex) deficiency or accumulation of substrates

sharp anatomic detail and information about the chemistry of living tissue