N303 - Child With Special Needs

Front 1

What is a gene?

Back 1

A segment of DNA that contains genetic information necessary to control a certain physiologic function or characteristic, such as the synthesis of a polypeptide (structural gene)

Front 2

Gene mutations

Back 2

1. Gene mutations can cause disease by modifying proteins that regulate cellular function
2. Hemoglobinopathies (Sickle cell disease)
3. Not all genetic defects have a familial history
4. Genetic defects can cause congenital defects
5. Others can express as one gets older
6. Environmental factors can trigger the expression of genetic defects (e.g. PKU, cancer)

Front 3

What are congenital malformations?

Back 3

1. Interruption of timed, serial events in organ development
2. Malformations can be minor to so major that quality of life is effected
3. Can occur in isolation or with a cluster of anomalies

Front 4

What causes congenital malformations?

Back 4

Chromosomal, inutero environmental insults, environmental agents

Front 5

What is a syndrome?

Back 5

Malformations that occur in a pattern from a single cause (i.e. Down’s syndrome and Fetal Alcohol Syndrome)

Front 6

What are chromosomal abnormalities?

Back 6

Impact of the abnormality is r/t to the size of the chromosome and gene effected

Front 7

What are structural chromosomal abnormalities?

Back 7

Deletions, breakages, translocations, duplications

Front 8

What are numerical chromosomal abnormalities?

Back 8

1. Should contain 2 copies of each chromosome (46)
2. Problems occur with additions or deletions in the twosome
3. Examples: Down’s, Klinefelter, Turner

Front 9

What are autosomal dominant disorders?

Back 9

Single-gene disorders in which only a single gene needed to transmit disease, known in family tree, 50% transmission

Ex: Achondroplasia, Neurofibromatosis

Front 10

What are autosomal recessive disorders?

Back 10

Single-gene disorder in which the carrier state exists, two of the same gene needed for transmission, 25% rate

Ex: Cystic Fibrosis, Sickle Cell disease

Front 11

What is sex-linked inheritance?

Back 11

1. Gene transmission that is located on one of the sex chromosomes
2. Primarily X chromosome as few genes found on the Y chromosome
3. Males only have 1 – X chromosome so only one gene needed to transmit problem – acting like autosomal dominant inheritance
4. Females have 2 – X chromosomes so abnormal gene is hidden by normal gene, can be carrier
5. Ex: Hemophilia A, color-blindedness

Front 12

Variable expression of gene

Back 12

1. Some disorders have > than 1 pattern of transmission
2. Fresh mutations occur
3. Mutations of abnormal gene occurs
4. Multifactorial: Genetic suspectibility + environment interact to produce a disease state

Ex: congenital hip dislocation, neural tube defects, pyloric stenosis

Front 13

Genetic counseling

Back 13

1. Early ID of genetic disorder allows for implementation of measures to prevent complications and may prevent the unexpected birth of another affected child.

2. Provides information on risk of disease and transmission and interpretation of this information.

3. Communication process to inform, not a process to make recommendations or decisions for the family.

Front 14

Chronic Illness

Back 14

Long term, no cure or residual char that require assist/adapt in order to function

Front 15

Developmental Delay vs Disability

Back 15

Functioning level <avg child vs Mental/physical limitation prior to 21y continues indefinitely

Front 16

Cognitive Impairment

Back 16

1. Any mental and/or functional deficiency, MR < 70 IQ
2. Ascertain functional level

Front 17

Sensory impairment

Back 17

1. Vision: visual function that is not corrected with lenses

2. Hearing: loss of hearing (> 40dB)

Front 18

Situational Crisis

Back 18

Diagnosis is relief and source of stress

Front 19

Reorganize (Resilence)

Back 19

Cohesion, balance, integrate, communicate, attribute + meaning, dev collaborative relationships

Front 20

Stages of Adjustment

Back 20

1. Loss of perfect child
2. Shock-denial (non-adaptive if interferes)
3. Anger, bargaining, sadness, acceptance (may not occur with death) - benevolent overreaction; maintain expectations, discipline
4. Reintegration or normalization

Front 21

Reintegration or normalization

Back 21

1. Diagnosis has the potential to disrupt family processes

2. View family as normal, acknowledge threat of illness, incorporate care into family regime but not the focus, continual struggle, meet needs of all members

Front 22

Factors that effect Normalization

Back 22

1. Perceived stress

2. Support systems, perception of illness, coping mechanism, available resources, concurrent stresses, family resilence (able to reorganize roles)

3. Arduous day-to-day care

4. Seeing child in constant pain

5. Setbacks occur with transitions (changes in course of illness, developmental milestones, change family settings/configuration), anniversaries

Front 23

Factors that affect Child’s Coping Ability

Back 23

1. Age/developmental level – relate as did with reaction to hospitalization (base developmental stage on abilities, not chronology)

2. Cognitive level

3. Type of illness

4. Temperament

5. Self-concept

6. Previous knowledge

7. Support resources of child/family

Front 24

Developmental Responses

Back 24

1. Infant = caretaker loss, bonding, prolonged separation. May include crying, clinginess and/or resist touch

2. Toddler = separation, loss of mobility, parental reactions. May regress, sleep disturbance, including clinginess

3. Preschooler = thoughts caused, impairs social development, body limitations, guilt from failures, morbid focus on death, out of control, regress, fear of sleep

4. School-age = loneliness, including dependence that results in hostility & non-compliance, body mutilation, by 9/10y understand universality, fears, vulnerabilities. May act out, psychosomatic, difficulty with school, sleep

5. Adolescent = interferes w/personal & sexual development, not able to conform, non-compliant, limit jobs, more worried about physical changes, most mature understanding but still think invincible, depression. May act out, psychosomatic, difficulty with school, sleep

Front 25

Incorporate Family-Centered Care

Back 25

1. Support what they do and how they respond. Be flexible. Allow them to do what they need to do.

2. Encourage to maintain self. Make sure they know you think of them as part of the team – ongoing communication. Affirm their role, refrain from making judgments.

3. Demonstrate a commitment to maintaining child’s comfort and well-being. Be present, demonstrate vigilance, use touch.

4. Provide clear and timely explanations. Reframe if needed, repeat as needed.

Front 26

Etiology of Cognitive Impairment

Back 26

Maternal infection, drugs, birth trauma, gestational, disease, chromosomal abnormalities, nutrition, metabolic

Front 27

Early signs of Cognitive Impairment

Back 27

Poor eye contact, irritability, slow feed, decreased alertness to contact, voice, decreased activity, developmental delay

Front 28

Nursing Care of Cognitive Impairment

Back 28

Early intervention, self-care, G/D, interdisciplinary

Front 29

Down's Syndrome

Back 29

1. Most common chromosomal abnormality

2. Trisomy 21, 47 chromosomes

3. Increased incidence in women >35 years, however born to parents of all ages

4. Classic physical features, none diagnostic

5. Other features: variable intelligence, other congenital abnormalities (45% CHD), sensory problems, altered immune function, short stature, obesity

6. No cure, although correction of some of the above features can be done

Front 30

Etiology of Hearing Impairment

Back 30

Maternal infection, Abx, LBW, FH, neuro disease or malformation, meningitis

Front 31

Hearing Impairment

Back 31

1. NB: state mandated screening at time of d/c

2. Infant: lack of startle, can’t localize sound by 8 mos, no babble by 7 mos

3. Children: no intelligible speech by 24 mos, yelling, seem dreamy, irritable

4. Communication: hearing aid, lip reading, AV aids, line of vision, writing pad

Front 32

Etiology of Visual Impairment

Back 32

RLF, maternal infection, meningitis, trauma, retinoblastoma

Front 33

Visual Impairment

Back 33

1. Infant: blink, follow movement, eye contact, RR

2. Child: screening for visual acuity, squinting

Front 34

Autism

Back 34

1. Disorder of brain development with strong genetic component – no known cause, behavioral disease

2. Early identification and intervention is key

3. Lifelong, 4x in males than in females

4. Appear normal

5. Wide range of characteristics

6. Deficits in communication, social, sensory, play

7. Repetitive behaviors, tantrums, aggressive/self-injury

8. Symptoms appear 18 mos – 3y

9. Treatment aimed at behavior and social skills