assess developmental disorders Flashcards
Define normal development
An individual that grows and matures on an expected path and achieves developmental milestones appropriately
define abnormal development
An individual that is unable to achieve developmental milestones as expected compared to individuals of similar age
developmental delay
Usually 2 standard deviations below the mean for a child’s chronological age, corrected for prematurity. Developmental quotient: developmental age/chronological age. >85% is ok, 70-85% requires close monitoring and <70 refer
domains of development
gross motor, fine motor, language, cognitive and social
Methods used to assess development
History (milestones), parent report questionnaires (ages and stages), physical exam, denver II, formal evaluation by child development team
compare/contrast developmental delay with intellectual disability
All children with Intellectual disability have developmental delay but not all children with developmental delay have intellectual disability
degrees of intellectual disability
Mild: IQ 50-70. Moderate: IQ 35-50. Severe: IQ 20-35. Profound: IQ < 20
Compare/contrast intellectual disablity with mental retardation
same thing! IQ 2 adaptive skill areas including communication, self care, home living, social sklls, community use, self direction, health and safety, functional academics, leisure and work
What is cerebral palsy
An acquired, non progressive disease with motor impairment and onset in utero, infancy or early development
Types of cerebral palsy
- spastic: 70-80%. Can be quadraplegic (both arms and legs affected), paraplegic (both legs only), diplegic (both legs with slight involvement elsewhere), or hemiplegic (arm and leg on one side). 2. Athetoid/dyskinetic: 20%. 3. Ataxia: <10%
Define autism
delays in at least 1 of the following before age 3: social interaction, language as used in social communications, symbolic (emerges aroung 20 months) or imaginitive play (emerges around 2 years)
List other autism spectrum disorders
PDD-NOS and Asperger
Define developmental disability
Severe, chronic disability of an individual 5 years of age or older that:1. Is attributable to a mental or physical impairment or combination. 2. Is manifested before the person attains age 22. 3. Is likely to continue indefinitely 4. Substantial functional limitations in three or more areas of major life activity (Self care, Receptive and expressive language, Learning, Mobility, Self-direction, Capacity for independent living, Economic self sufficiency).
developmental disability vs intellectual disability
They are similar, but DD is more of an umbrella term that includes ID
Types of developmental disorders
Congenital, genetic/heritable or acquired
Types of congenital developmental disorders
- CNS malformation: Malformations of cortical development, Neurocutaneous disorders (TSC, NF, etc). 2. Intrauterine acquired: Infectious (CMV, toxoplasmosis, etc), Toxic (fetal alcohol, etc), Stroke, Unknown (E.g, congenital hydrocephalius
Types of genetic/heritable developmental disorders
- Single gene disorders: classic mendelian (PKU), complex mendelian (mosaicism, imprinting, triple repeats), non-mendelian (mitochondrial). 2. Chromosomal: insertions deletions, duplications
Types of acquired/postnatal developmental disorders
- Perinatal: Asphyxia, Prematurity/intracranial hemorrhage, Stroke. 2. Trauma: Non-accidental trauma. 3. Infectious. 4. Nutritional. 5. Metabolic: Hypoglycemia. 6. Epileptic encephalopathy
developmenal disability tests
history/physical, • Metabolic testing • Cytogenetic studies • Lead and thyroid testing • Eeg • Neuroimaging
Metabolic studies
Serum Amino acids – Urine Organic acids – Serum Lactate – Serum Ammonia – Serum Pyruvate
Fragile X clinical features and genetics
Mutation in FMR1 gene from a CGG trinucleotide
repeat. – long jaw – high forehead – large/ protuberant ears – hyperextensible joints, – soft/ velvety palmar skin, – enlarged testies – initially shy with poor eye contact, then friendly and verbose. – Family history of MR
Rett syndrome clinical features and genetics
X linked MECP2 gene. – Microcephaly – Ataxia – Autistic like features – Stereotypical hand movements – Hyperventilation – Seizures
Angelman syndrome clinical features and genetics
Chromosome 15q11-13 methylation/deletion. – Wide mouth and prominent chin – Seizures – Microcephaly – Nonverbal – Happy demeanor/ frequent smiling – Ataxia – Hand flapping
Risk factors for lead poisoning
– House built in 1950 or earlier – Victims of abuse and neglect – Parents that are exposed to lead (vocationally, home renovations) – Low income families
Prevalance of hypothyroidism in children
newborn screening has virtually eliminated this problem