The Child with an Intellectual and Developmental Disability

Question 1

Genetics & Genomics

* Human genome is the full set of DNA instructions that create characteristics of a human

* Has innumerable small variations called genotypes

* Genotypes - small variations in specific parts of the genome’s DNA sequence

* Small changes account for the phenotype - visible differences in eye color, skin color, height, and other observable physical characteristics

Answer 1

* Mutations occur in specific stretches of DNA through deletion, addition, or re-copying

> some mutations do not result in any changes in an individual’s appearance or functioning

> other mutations create enormous negative effects in cell and individual development

↓

> The small mutations lead to intellectual and developmental disabilities

Question 2

Developmental Disability has become an umbrella term that encompasses children with different conditions
> Intellectual disabilities
> Sensory deficits: hearing, vision, and speech
> Other conditions: cerebral palsy and autism spectrum disorder (ASD)
> Orthopedic problems

Answer 2

This led to the enactment of The Developmental Disabilities Assistance and Bill of Rights Act of 2000

The purpose is to attempt to ensure equal rights and access abilities for all disabled individuals

Question 3

Terms to Know

Answer 3

Mental age versus functional age = terms used to compare a child’s current ability with children of the same chronological age

Question 4

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Refers to the level of adaptive function

• Coping abilities developed to support ADLs, communication skills, and social skills

Answer 4

Functional age

Question 5

___ ___ notes a significant limitation in both intellectual and functional capacity

• Involves assessment of language, cognition, academic ability, self help skills, social behaviors, and motor performance
• Describes conditions that originate before the age of 18

Answer 5

Intellectual impairment

Question 6

Causes of intellectual disability include

Environmental

> Alterations occurring during pregnancy - rubella, toxoplasmosis, drug exposure

> Neonatal alterations - prematurity

Answer 6

Biologic

> Genetic - muscular dystrophy, Down syndrome, Fragile X syndrome

> Acquired childhood conditions - meningitis, pertussis, lead poisoning, tumors, cardiorespiratory arrest

> Psychosocial problems - poverty, psychosis

Question 7

Disorders Resulting in Intellectual or Developmental Disability

Disorder of Intellectual Impairment
> Down Syndrome

Disorders of Known Genetic Cause
> Fragile X
> Rett Syndrome

Answer 7

Disorders Related to Environmental Alterations
> Fetal Alcohol Syndrome
> Failure to Thrive

Disorders with unknown genetic influence
> Autism spectrum disorders

Question 8

Down Syndrome - Trisomy 21

* Presence of all or part of a 3rd copy of chromosome 21

* Most common chromosomal disorder

* Most frequent cause of moderate intellectual impairment

* Maternal age is considered most significant risk factor

* Vital partnership between parents and professionals

Answer 8

Manifestations

* Identified at birth includes characteristic facial and head features

> Brachycephaly (disproportionate shortness of the head); flat profile; inner epicanthal folds; wide, flat, nasal bridge; narrow, high arched pallet; protruding tongue; small, short ears that may be low set

Question 9

Manifestations cont’d

* Congenital cardiac defects and other physiological problems (vision and hearing)

Answer 9

Body features

• Short stature and broad hands
• Singular transverse creases across the palm and soles of the feet
• Wide gap between 1st and 2nd toes
• Short broad neck
• Increased incidence of umbilical hernia
• Dry skin with tendency to crack and fissure
• Hyperextendability of joints with hypertonicity of muscles
• Atlantoaxial instability

Question 10

Diagnostic evaluation

Prenatal testing - ___

Phenotype facial features at birth

Genetic testing

Other diagnostic testing throughout lifespan

• Cardiac (ECG)
• Ophthalmological exams
• Thyroid screening
• Dental

Answer 10

amniocentesis

Question 11

Therapeutic management

* Regular screening, early intervention, and active management of problems

* Surgery - correct cardiac abnormalities, GI malformations and craniofacial deviations

* Neck x-rays - before any sports

* Additional services throughout lifetime

• Training
• Respite care
• Social services
• Psychotherapy
• Preventative or corrective medical care

Answer 11

Nursing care

* Support parents at birth and quickly identify resources
* Encourage bonding and attachment - looking for child’s strengths

* Parents encouraged to observe the child for signs of readiness to learn a new task such as reaching for a cup or attempting to dress
* Encourage self care whenever possible
* Use adaptive tools for zipping, buttoning, and self feeding - may lack coordination, muscle strength, and dexterity

* Breastfeeding may not be possible due to poor muscle tone or sucking reflex - use special bottles or adaptive utensils for feeding and refer to nutritional counseling

Question 12

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Common inherited cause of cognitive impairment and a genetic cause of autism

* Single gene defect in X chromosome

* Boys are more affected than girls
> Females can inherit the gene from a parent and become a carrier

* Affects 1 in 5000 male children

Answer 12

Fragile X Syndrome

Question 13

Manifestations

* Intellectual functioning

* Physical characteristics
__ __
- Large or prominent ears and a long narrow face
- Head circumference disproportionate to child height and weight
- Lowered epicanthal folds
- Prominent nasal alae

Enlarged testicles, flat feet, lax ankles, hyperextendable fingers, soft smooth skin, and mitral valve prolapse

* Social and emotional

• Gaze aversion - difficulty looking at people directly
• Difficulty with peer social relationships

Answer 13

Facial dysmorphism

Question 14

* Speech and language capability and sensory impairment

• Language and sensory impairments
• Self-injury, extreme agitation
• ___ (repetitive sounds) and abnormal speech patterns
• Hyperkinetic behaviors - restlessness and agitation attention deficits
• Hand biting
• Sensory motor integration deficits - poor coordination, motor planning deficits, tactile defensiveness
• Symptoms progress through their lives and may include progressive dementia

* Comorbidities
- Anxiety, depression, seizures

Answer 14

Echolalia

Question 15

Therapeutic management

• Early intervention programs
• Special education, vocational programs, and behavioral management
• Speech and language evaluation
• Sensorimotor integration therapy may be offered

Answer 15

• No medications but may use medications to treat depression or anxiety and hyperactivity and seizures
• Genetic counseling and testing

Question 16

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• Linked to female sex with an estimated 1 in 10,000 females being affected; also related to the X chromosome
• Initial period of normal development - symptoms usually emerge between the ages of 6 and 18 months
• Social and intellectual development stops, and seizures and physical disabilities emerge
• Considered a developmental disorder and an autism spectrum disorder (ASD)
• Characteristic clinical signs
  * Stereotype hand movements
  * Gait disturbances
  * Loss of fine motor control
  * Regression of speech
• To diagnose - signs must occur in the absence of brain trauma and not within the first 6 months of life

Answer 16

Rett Syndrome

Question 17

Fetal Alcohol Spectrum Disorder (FASD)

• S/S are related to prenatal alcohol exposure - from mild to severe
• Most severe disorder experienced by the infant who is exposed to alcohol in utero
• Classic defects
  * Persistent symmetric growth retardation
  * Malformations of the face and skull
  * Skeletal and cardiac malformation
  * CNS defects

* Maternal alcohol consumption is the cause of FASD

Answer 17

Manifestations

• Prenatal and postnatal growth deficiency
• Microcephaly
• Joint anomalies
• Mild to moderate intellectual disabilities
• Tremulousness in the neonatal period and irritability
• Hyperactivity
• Characteristic facial features = short palpebral fissures; a smooth philtrum; a thin upper lip

Question 18

Other abnormalities -

* altered palmar crease patterns, short distal phalanges

* cervical vertebral malformations

* ear anomalies, cleft lip and palate

* severe cardiac defects, renal anomalies

* strawberry hemangiomas

* genital anomalies

Question 19

Diagnostic evaluation - criteria for diagnosis:

• Facial features
• Growth deficiency
• Abnormal morphology
• Neurobehavioral impairment
• Maternal alcohol consumption during pregnancy

* Diagnosed through physical examination and perinatal history

Answer 19

Nursing care

* Daily weight monitored
* Measure I&O
* Different feeding strategies (positioning; smaller, frequent feedings; using different nipples)
* Assist parents with feeding by providing support
* Promoting early parent-infant attachment
* Involve parents in care
* Allow parents to verbalize concerns

Question 20

Failure to Thrive

* Describes children whose weight or rate of weight gain is below that of children who are the same age

* May result from:

• Organic or medical cause - chromosomal abnormalities; defects in the heart or lung; CNS damage; exposure to toxins
• Non-organic causes associated to child temperament, parental expectations, maternal emotional state, and sociodemographic factors

Answer 20

The child is at risk for FAILURE TO THRIVE if child is smaller than the peers or fails to gain appropriate weight over time

Question 21

Manifestations - Physical indicators: non-organic

• Weight below the 5th percentile
• A sudden or rapid deceleration in the growth curve
• Delay in reaching developmental milestones
• Decreased muscle mass
• Muscle hypertonia
• Abdominal distention
• Generalized weakness
• Cachexia (general ill-health and malnutrition)

Answer 21

Behavioral indicators

• Avoidance of eye contact
• Avoidance of physical touch
• Intense watchfulness
• Sleep disturbances
• Lack of age-appropriate stranger anxiety
• Inappropriate lack of preference for one’s own parents
• Disturbed affect
• Repetitive self-stimulating behaviors

Question 22

Therapeutic management

• Managed in an outpatient setting
• Treatment = Nutritional therapy to increase the child’s caloric intake
• The goal is for the child to grow at 2-3x the average rate for the age
• Daily multivitamin supplements with minerals
• Caloric enrichment food and formula (up to 24 cal/oz)

Answer 22

Nursing care

• Assess inorganic cause (age at onset, history of illness, especially GI illness, dietary patterns)
• Complete a thorough psychosocial history - income, family (dis)organization, social isolation, stress factors, support systems, family psychopathological conditions (maternal depression, family violence, alcoholism, drug dependency)
• Determine availability of food, family income, preparation of food
• Assess parent-infant interactions (how the child is held when fed; how eye contact is initiated and maintained; facial expressions of both child and caregiver)

Question 23

Nursing care cont’d

• Look at caregivers’ responses to cues (when child cries; reaches out; looks towards the caregiver)
• Role modeling and teaching appropriate adult-child interactions - including holding, touching, feeding

Answer 23

The focus of the nursing intervention is to facilitate improvement in the child’s physical and developmental status and enhance positive parenting

Question 24

Autism Spectrum Disorder (ASD)

* Neurodevelopmental disorder affecting 2 domains - reciprocal social communication and restricted, repetitive patterns of behaviors

* Most common cause of disability in children younger than 5 years of age

* Symptoms may not be noticeable before 3 years of age

* May be gradual or sudden onset

Answer 24

Indicators of ASD include:

• Lack of social ability like poor eye contact
• Lack of verbalization like babbling
• Little interest in verbal interaction
• Inability to use toys
• Lack of smiling
• Excessive preoccupation with creating order
• Lack of response to verbal interactions

Question 25

Manifestations

* Can be a severely incapacitating life long developmental disorder

* Characterized by qualitative impairment in communication or language, social skills, and behavior

* May demonstrate cognitive capacity but…

• with absence or delay in language;
• abnormal ways of relating to people, objects, or events; and
• difficulty regulating emotions

Answer 25

* Children with autism show a fixed, unchanging response to a particular stimulus

* Self-stimulation is common - twirling a toy or rubbing the top of the head

* May overreact to changes within the environment

* Do not have a typical sense of personal space - stand face-to-face

Question 26

Behaviors and characteristics of ASD

Social

• Lack of awareness of others’ existence or feelings - ignores others’ emotions
• Lack of/abnormal amount of comfort seeking in times of distress - does not show pain when hurt
• Lack of/abnormal imitation of others’ actions
• Lack of/abnormal social play - plays alone
• Gross impairment in social peer relationships - does not want or need friends

Answer 26

Language

• Lack of/abnormal verbal communication
• Abnormal nonverbal communication
• Absence of imaginative play
• Impaired interactive speech and communication

Question 27

Restricted behavioral repertoire (presence of at least 2 of the following)

* Stereotyped body movements - spinning around, headbanging, rocking

* Persistent preoccupation with characteristics of objects (smell, taste, or texture) or abnormal attachment to objects

* Marked distress over minor changes in environment - tantrums when lights are turned on

* Unreasonable insistence on routine - follows schedule to the minute

* Marked restriction in range of interests - repeatedly aligns objects

Question 28

Screening and diagnostic evaluation

* AAP recommends developmental screening for all children ages 9, 18, and 30 months of age

* Autism-specific screening at 18 and 24 months of age

* Diagnosis as early as 18 months
> 2 core symptoms divided into 2 domains
- Social communication and interaction
- Restrictive, repetitive patterns of behavior

Answer 28

Diagnosis is made when all 3 symptoms of social affective differences are present along with 2 to 4 symptoms related to restrictive and repetitive behaviors

Most common screening tool is the Modified Checklist for Autism in Toddlers (M-CHAT) - completed around 18 months of age by parents in the PCP’s office

Question 29

Therapeutic management

* Early identification is essential

* Treatment consists of creating an environment that facilitates interaction and promotes replacement of stereotypical behaviors with more normal behaviors

Answer 29

Nursing care

* Educate parents about co-occurring conditions (obesity)

* Educate on appropriate dental care such as brushing, flossing, routine dental care

* Prevention/safety
> Wandering
> Major cause of death is drowning - higher incidents occur between the ages of 5-9
> Educate about behavioral therapy, latches on doors and gates, ID bracelets, and GPS trackers

Question 30

* Refer to programs that offer
- Stimulation; modify stereotypical behaviors; or establish routines for teaching

The focus of these programs is on safety precautions for self-injurious behaviors like headbanging and the promotion of communication

Answer 30

When hospitalized, nurses must

• Work with family to determine routines, habits, and preferences
• Evaluate child’s tolerance of the situation by monitoring signs of anxiety and emotional comfort
• Work with family to determine specific ways child communicates
• Prevent injury - may need helmet or side rolls
  > Work with family to understand safety precautions