Rett Syndrome
Unlike FXS that affects primarily ___, RS is almost exclusively linked to ___
FSX-males
RS-females
Mutations on the X chromosome
Is a neurodevelopmental d/o. They have deficits in
social interactions, communication and behavior
Prognosis: can be improved or overcome
___ is the most severe form experienced by the infant exposed to alcohol in utero
FAS
Characterized by developmentally inappropriate degrees of
inattention, overactivity and impulsivity
What disorder has clinical manifestations of square head with upward slant to eyes and protruding tongue?
Down syndrome
p.s.
at 35: risk: 1/350 births
at 40: risk: 1/100 births
What does the development look like?
Initial period of normal development then symptoms emerge between 6 and 18 months of age. Social and intellectual development stops
Clinical Manifestations of ASD
Peculiar and bizzare characteristics primarily in specific areas:
Socialization
Communication
Behavior
Difficulty with eye and body contact
Language delay
FAS clinical manifestations
persistent symmetric growth retardation
malformations of the face and skull
skeletal and cardiac malformations
CNS deficits
intellectual and developmental disabilities
Children with ADHD display what kinds of manifestations
lowered intellectual development, minor physical abnormalities, sleep disturbances, behavioral/emotional d/o, and difficulty in social relationships
What two disorders can be managed by stimulants?
Fragile X and ADHD
What does it look like?
stereotypical hand and gait disturbances
seizures
Dx for ASD normally occurs:
often delayed until 2-3; this is usually when the symptoms appear
can be as early as 1 year of age but it could be possible that developmental stages might not have been reached bc the family (trust v mistrust- so they are not as loving bc they haven't developed trust and parents might mistake that as autism but that just means parents didn't build trust)
Asperger is so call ___ autism
high-functioning
Dx of ADHD is established on basis of
self-reports, parent and teacher reports, and assessment
Early dx is important
Recent studies- ADHD linked to genetics
Symptoms of this d/o are social and emotional
Impairments in ability to
talk, walk, eat and breathe
Numerous therapies used for ASD
Recognize early
Attempt behavior modification
Provide a structured routine
There is no cure for autism but there has been some improvement with language skills
Asperger's do not show the same level of disability as autism. They have high levels of ___ and ___ development.
High levels of intellectual and language
When you are assessing a child with ADHD what are some things you might see?
fidgeting with hands or squirms in their seat
easily distracted with external or internal stimuli
difficulty following instructions
poor attention span
shifts from 1 uncompleted activity to another
talks excessively
interrupts or intrudes on others
engages in physically dangerous activities w/o considering possible consequences
What is the most important nursing role for cognitively impaired children?
EARLY INTERVENTION!!
What kind of hand movements?
repetitive; flapping and clasping hands
Dr.Andreas Rett is the discoverer
Autism becomes a family disease and parents express guilt and shame. We need to stress the importance of
family counseling; clients should also be managed at home of in long-term placement facility
Symptoms of Asperger's are social and ___.
What do they problems with?
Problems: rigidity regarding schedules, motor clumsiness, and organizational problems
Interventions for ADHD
Behavioral therapy- focus on preventing undesirable behavior
Medication- stimulants, SE of meds include appetite suppression, wght loss, nervousness, tics, insomnia, and increased BP
Maintain a consistent environment
Appropriate classroom placement
Environmental and physical safety measures
Promote self-esteem
Regular follow-up
Mild- self esteem issues, social isolation/loneliness, and depression
Severe- self-injury, fecal smearing, temper tantrums, tearing personal items, disrobing