Congential Pathology (and assessment for developmental disorders) Flashcards
What is considered normal development?
• Individual who grows and matures on an expected path and achieves developmental milestones appropriately
What is considered abnormal development?
• Individual who is unable to achieve developmental milestones as expected compared to those of similar age
When is a developmental milestone considered delayed?
- When that individual is 2 standard deviations below the mean
- They are outside of 95.5% of the population
What is the proper term for mental retardation?
• The phenotype is better known as intellectual disability
Is a developmental disability the same as a developmental delay?
• No, they are not the same
How do you label something a developmental delay?
- From the journal of pediatric psychology
- 2 SD below the mean for a child’s chronological age
- Developmental quotient = (developmental age)/(chronological age)
- If over 85, give reassurance
- Btw. 70 - 85 close monitoring
- Below 70 - refer to a specialist in development
What are the developmental domains?
- Gross motor
- Fine motor
- Language
- Cognitive
- Social
- Each are considered a different area in which you can experience a delay or problem
What are the 4 parts of the clinical approach to developmental problems?
• History ○ Milestones reached • Parent report questionnaires ○ Ages and stages (ASQ) • Physical examination • Formal evaluation ○ Child development team
What is the cost to the family for screening tests for developmental delays?
- Depends on the service
- The most expensive is 115 dollars for 100 forms and 1 kit (denverii)
- 75 dollars - child development inventories - forms to start then 1 dollar per screen
Do the screens that you pay for actually work?
- Each service has different number of items
- Max specificity is 96%
- Max sensitivity is 80%
- Limited by language available
What are the criteria for labeling an intellectual disability?
• Must be present from childhood • IQ must be 2 SD below the mean (less than 70-75) • Significant limitations in more than 2 adaptive skill areas ○ Communication ○ Self care ○ Home living ○ Social skills ○ Community use ○ Self direction ○ Health and safety ○ Functional academics ○ Leisure and work
What is the age threshold for reliably measured IQ?
• 5 years. Can’t be reliably done before that
What is mild Intellectual disability?
• IQ of 70-50, 85% of ID population
What is moderate Intellectual disability?
• IQ of 50-35, 10% of ID population
What is severe Intellectual disability?
• IQ of 35-20, 10% of ID population
What is profound Intellectual disability?
• IQ less than 20, 1% of ID population
What’s up with cerebral palsy?
- Acquired disease
- Non-progressive
- Motor impairment
- Onset in utero, infancy or early development
- Spastic (70-80%) vs. athetoid/dysckinetic (20%) vs. ataxic (10%)
What’s up with Autism?
• Social interaction problems
• Social communication problems
• Restricted repertoire of interests, behaviors and activities
• Delays or abnormal functioning in at least one of the following with onset prior to age 3:
○ Social interaction
○ Language as used in social communications
○ Symbolic (20 months) or imaginative play (2 years)
What is meant by the umbrella term: developmental disability?
• Severe, chronic disability of an individual 5 years of age or older ○ Attributable to a mental or physical impairment ○ Manifested before the person is 22 years old ○ Likely to continue indefinitely • Substantial functional limitations: ○ Self care ○ Receptive and expressive language ○ Learning ○ Mobility ○ Self-direction ○ Capacity for independent living ○ Economic self-sufficiency
What’s the flow chart for managing a developmental delay?
- Routine well child check
- Parental concern is expressed
- Screening
- DQ less than 70, refer
- Refer to neurologist or child development specialist
- Confirms DD and works up testing for etiology and advises treatment
What are the three categories given for etiology of developmental disorders?
- Congenital
- Genetic/heritable
- acquired
If a child acquires a disease intrauterine, what category does that fall in?
- Congenital
- Infections - CMV, toxoplasmosis
- Toxic - fetal alcohol
- Stroke
- Unknown - congenital hydrocephalus
What’s up with Fragile X?
• Clinical features ○ 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 MR • Mutation in FMR1 gene from CGG tirnucleotide repeat
What’s up with Rett Syndrome?
• Clinical features ○ Microcephaly ○ Ataxia ○ Autistic features ○ Sterotypical hand movements ○ Hyperventilation ○ Seizures • X-linked MECP2 gene
What’s up with angelman syndrome?
• Clinical features ○ Wide mouth and prominent chin ○ Seizures ○ Microcephaly ○ Nonverbal ○ Happy demeanor/frequent smiling ○ Ataxia ○ Hand flapping • Chromosome 15q11-13 methylation/deletion
Why should lead poisoning be on your differential for DD?
• 10% of children with DD and presence of risk factors have eleveted blood lead levels
