Assessment of Developmental Disorders Flashcards
Describe normal development
individual who grows and matures on an expected path and achieves developmental milestones appropriately
how do you evaluate and assess normal development?
Milestones, parent questionnaires, physical exam, or formal evaluation with child development team. There are some screening tests too.
Describe abnormal development
individual who is unable to achieve developmental milestones as expected compared to those of similar age
what is the cause of cerebral palsy?
a variety –> infections, toxins, lead poisoning, trauma, encephalitis/meningitis, asphyxia, 2% of cases are inherited. common in premies.
How do you diagnose cerebral palsy?
usually diagnosed with history and physical. A general movements assessment seems to be most accurate.
what is developmental delay? How’s it different?
Usually 2 SD below the mean for normal development. Development quotient is a metric used to define it = developmental age/chronological age. >85 give reassurance, 70-85 close monitoring,
What is intellectual disability? How’s it different?
Criteria: 1) present from childhood (below age 18) 2) intellectual functioning at least 2 SD below mean 3) significant limitations in at least 2 adaptive skill areas (communication, self care, home living, social skills, community use, self direction, health and safety, functional academics, leisure and work)
borderline development?
Between 1 and 2 SD from mean (double check)
How do you distinguish between developmental delay and intellectual disability?
All children with intellectual disability have developmental dealy BUT not all children with developmental delay have intellectual disability.
degrees of intellectual disability
mild (70-50IQ), moderate (50-35IQ), severe (35-20IQ), profound(
characteristics of cerebral palsy?
acquired, non-progressive, MOTOR IMPAIRMENT, onset in utero, infancy or early development. CP is a group of movement disorders that appear in early childhood.
types of cerebral palsy
spastic (70-80%), athetoid/dyskinetic (20%), ataxic (
How does she define autism?
delays or abnormal functioning in at least one of following areas, with onset prior to age 3: social interaction, language, symbolic or imaginative play..
so how is developmental disability (DD) different from ID?
DD is more of an umbrella term that includes ID
How is developmental disability defined?
Severe, chronic disability of an individual 5 years of age or older that 1) is attributable to a mental or physical impairment or both 2) is manifested before the age of 22 3) is likely to continue indefinitely. Substantial functional limitations in 3 or more areas of major life activity (self care, receptive and expressive language, learning, mobility, self-direction, capacity for independent living, economic self-sufficiency)
etiology of developmental disorders
1) congenital (CNS malformation, neurocutaneous disorders (TSC, NF, etc)) 2) genetic (fragile X, DS) 3) acquired: TORCHES, perinatal stroke
clinical approach to developmental disability
History and physical, metabolic testing, cytogenetic studies, lead and thyroid testing, EEG, neuroimaging, optho exama
what does a metabolic study for DD include?
serum organic acids, urine organic acids, serum lactate, serum ammonia, serum pyruvate
what causes fragile X?
mutation in FMR1 gene from a CGG trinucleotide repeat
Clinical features of fragile X?
long jaw, high forehead, large/protuberant ears, hyperextensible joints, soft/velvety palmar skin, enlarged testes, initially shy with poor eye contact then friendly and verbose, family history of mental retardation
what is the cause of Rett syndrome?
mutation in x-linked MECP2 gene
what are the clinical features of Rett syndrome?
microcephaly, ataxia, autistic features, stereotypical hand movements, hyperventilation, seizures.
clinical features of angelman’s syndrome?
wide mouth and prominent chin, seizures, microcephaly, nonverbal, happy demeanor/frequent smiling, ataxia, hand flapping
what is the cause of angelman syndrome?
chromosome 15q11-13 methylation/deletion
