What causes Fragile X?
Mutation in FMR1 gene from a CGG trinucleotide repeat
IQ cannot be reliably measured before age ____.
What is the plan if the developmental quotient is less than 70?
Cerebral palsy is a _____ impairment.
Name 2 inherited developmental disabilities.
- Fragile X
- trisomy 21
Name 9 adaptive skill areas.
- Self care
- Home living
- Social skills
- Community use
- Self direction
- Health and safety
- Functional academics
- Leisure and work
When does cerebral palsy present?
- en utero
- early development
Name 2 acquired developmental disabilities.
- perinatal stroke
- wide mouth and prominent chin
- happy demeanor/frequent smiling
- hand flapping
What is the plan if the developmental quotient = 70-85?
What causes Angleman Syndrome?
chromosome 15p11-13 methylation/deletion
- Autistic features
- Stereotypical hand movements
Name 3 types of cerebral palsy.
Does cerebral palsy progress?
Name 5 domains of development.
- Gross motor
- Fine motor
This is when an individual who is unable to achieve developmental milestones as expected compared to those of similar age.
Does cerebral palsy = intellectual disability?
no, it only does 70% of the time
How is the developmental quotient calculated?
developmental age / chronological age
What are the diagnostic criteria of intellectual disability?
present from childhood intellectual functioning at least 2 SD below the mean significant limitations in > 2 adaptive skill areas
This dx shows delays or abnormal functioning in at least one of the following areas, with onset prior to age 3:
- Social interaction
- Language as used in social communications
- Symbolic or imaginative play
What causes Rett Syndrome?
X-linked MECP2 gene
Delayed development is defined as?
2 standard deviations below the mean for a child's chronological age
- 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
What is a developmental disability?
- Severe, chronic disability of an individual 5 years of age or older that:
- Is attributable to a mental or physical impairment or combination
- Is manifested before the person attains age 22
- Is likely to continue indefinitely
What is abnormal development?
when an individual who is unable to achieve developmental milestones as expected compared to those of similar age