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Comps > Developmental Delay > Flashcards

Developmental Delay Flashcards

1
Q

Developmental Milestones

A
  • Gross Motor
  • Fine Motor
  • Social
  • Language
  • Self help
  • Cognitive
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2
Q

Gross Motor Milestones

A
  • 2 mo. to 4.5 mo.: Rolls over
  • 5 to 8 months: sits without support
  • 10 to 14 months: stands alone
  • 14 to 20 months: walks up steps
  • 21 to 28 months: pedals tricycle
  • 30 to 44 months: balance on one foot
  • By age 6: rhythmic skipping
  • By age 10: holds tandem stance for 10 seconds with eyes closed
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3
Q

Fine Motor Milestones

A
  • 2.5 to 4 months: grasps rattle
  • 4.5 to 7 months: transfers cube hand to hand
  • 8 to 12 months: neat pincer grasp
  • 15 to 20 months: builds tower of four cubes
  • 18 to 24 months: imitates vertical line
  • 28 to 36 months: copies circle
  • by age 5: draws square
  • by age 7: draws diagonal line
  • by age 12: draws 3D cube
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4
Q

Social Skills Milestones

A
  • 1.5 to 4 months: smiles at others
  • 4 to 9 months: seeks primary caregiver
  • 8 to 15 months: stranger anxiety
  • 10 to 15 months: displays 2 or more recognizable emotions
  • 11 to 20 months: exploratory play by self
  • 21 to 36 months: cooperative play in small groups
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5
Q

Language Milestones

A
  • 2 to 3 months: cries, coos, grunts
  • 4 to 6 months: babbling, makes most vowels, some consonants
  • 10 to 12 months: says one or two words, imitates sounds
  • 18 to 24 months: vocab of more than 200 words
  • by 3 years: talks in short sentences
  • by 4 to 5 years: talks clearly, uses adult speech sounds, mastered basic grammar, knows over 2,000 words by age 5
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6
Q

Self-Help milestones

A
  • 4.5 to 8 months: feeds self crackers
  • 10 to 14 months: drinks from cup
  • 13 to 19 months: removes clothes
  • 18 to 28 months: washes and dries hands
  • 30 to 42 months: dresses without supervision
  • by age 4.5: rides a bicycle with training wheels, cuts paper with scissors, colors inside lines
  • by age 5.5: ties shoelaces, prints first and last names
  • by age 6: rides bicycle without training wheels
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7
Q

Cognitive milestones

A
  • 0 to 3 months: turns head toward bright colors/lights/sound; responds to noise
  • 3 to 6 months: opens mouth for spoon, imitates familiar actions
  • 7 to 12 months: copies sounds and actions, responds to music
  • 13 to 18 months: identifies objects in picture book, laughs at silly actions, follows simple 1 step directions
  • by age 3: pays attention for 3 minutes, remembers yesterday, knows some numbers, matches circles and squares
  • by age 5: can count 10 or more objects, correctly names 4 colors, time concepts, knows about things used every day at home
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8
Q

Screening Tools

A
  • APGAR scores at birth
  • General developmental assessments
  • Tailored assessments for specific disorders (autism)
  • Tailored assessments for specific areas of concern (language)
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9
Q

APGAR Scores

A
  • Used to assess the condition and prognosis of a newborn
  • performed at 1 minute and 5 minutes of life
  • Score of 7 or higher = good or excellent
  • A: Appearance (color)
  • P: Pulse (heart rate)
  • G: Grimace (reflex irribility)
  • A: Activity (muscle tone)
  • R: Respiration (respiratory effort)
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10
Q

AAP Recommendations for developmental screening

A
  • all children should be screened for developmental delays and disabilities during regular well-child doctor visits at:
  • 9 months
  • 18 months
  • 24 to 30 months
  • Additional screening might be needed if a child is at high risk for developmental problems
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11
Q

Developmental Delay

A
  • Defined as performance significantly below average in a given area or skill (DQ
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12
Q

Evaluation of a child with global developmental delay

A
  • SNP oligonucleotide array
  • Fragile X molecular testing (2.6% yield)
  • Exome testing
  • Routine metabolic screen is not helpful (low yield,
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13
Q

Intellectual Disability

A
  • Defined as IQ of less than 70

- Etiology is identifiable in

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14
Q

Mild ID

A
  • can acquire academic skills up to the sixth grade level

- can become fairly self-sufficient and in some cases live independently, with community and social support

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15
Q

Moderate ID

A
  • Can carry out work and self care tasks with moderate supervision
  • Communication skills obtained in childhood
  • Able to live and function successfully within the community in a supervised environment such as a group home
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16
Q

Severe ID

A
  • May master very basic self care skills and some communication skills
  • Many severely intellectually disabled individuals are able to live in a group home
17
Q

Profound ID

A
  • MAY be able to develop basic self care and communication skills with appropriate support and training
  • Often caused by an accompanying neurological disorder
  • need a high level of structure and supervision
  • may need specialized medical care
18
Q

Genetic evaluation of intellectual disability

A
  • SNP oligonucleotide array analysis
  • consider MRI if clinically indicated
  • single gene testing if a specific disorder is suspected
  • metabolic studies
  • exome testing
  • Follow up is key
19
Q

Autistic Spectrum Disorders are diagnosed based on:

A
  • Impairments insocial reciprocity
  • Communication impairments
  • Behavioral abnormalities
20
Q

Autistic Spectrum Disorders include the diagnoses

A
  • Autism specturm disorders
  • Asperger Syndrome: normal intelligence and language, with some autistic traits
  • Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS): also called atypical autism, or mild autism; differences in some of the same area as autistic children, but not as severe
21
Q

Stats on Autistic Spectrum Disorders

A
  • At least 2/1000 children have autistic spectrum disorders
  • Gender ratio, 4:1 boys to girls
  • Parents may not symptoms as early as infancy, though typical age of onset is 3 years
22
Q

Autism characterized by

A
  • Difficulties with social interaction
  • displays problems with verbal and nonverbal communication
  • exhibits repetitive behaviors or narrow, obsessive interests
23
Q

Autism Facts

A
  • 5 to 10% of autism is due to an identifiable medical disorder: chromosome abnormality, Fragile X, oligonucleotide array abnormalities
  • Empiric recurrence risks available: range from 3 to 10%; some suggest 25% risk may be given if there are 2 or more affected siblings (suggesting an underlying genetic syndrome yet to be characterized)
24
Q

Genetic Testing for Autism

A
  • SNP oligonucleotide array testing
  • Molecular Fragile X studies
  • Metabolic testing (limited use)
  • Exome slice testing
  • Exome testing
25
Q

Importance of making a specific diagnosis

A
  • prognosis
  • recurrence risk (inherited vs. de novo)
  • management
  • treatment
  • an answer for the family
26
Q

Array CGH Analysis

A
  • Known by many names: CGH, microarray analysis, oligonucleotide array analysis
  • Most screen for 250 to 300 known disorders (lab specific, many versions of arrays available)
  • Evaluates areas of the genome for gains or losses (dups or dels) in higher resolution than a high resolution chromosome analysis
  • 24% of autism spectrum disorders have an array CGH abnormalities
  • Detects an abnormality in approx. 10-20% of kids with DD/MR with or without congenital anomalies
  • Microdeletions/duplications explain approximately 5% of males with idiopathic X-linked MR
  • Can be used as a replacement for FISH when a del/dup syndrome is suspected
  • Simultaneously and rapidly evaluates thousands of regions of the genome
27
Q

Advantages of SNP Array

A
  • Detects chromosome imbalances that may not be detected by traditional karyotyping
  • Identifies and further characterizes chromosome imbalances identified by karyotyping (unbalanced rearangements, etc.)
  • Adding the SNP array identifies regions of homozygosity: (uniparental disomy, triploidy, non-paternity, consanguinity, autosomal recessive disorders due to shared parental ancestry)
28
Q

Limitations of Array CGH

A
  • Cannot find BALANCED chromosomal rearrangements (translocations, insertions, inversions)
  • cannot detect change in gene DNA sequences (point mutations, triplet repeats, etc.)
  • Cannot detect gains or losses in regions of the genome not covered by the array (regions with a high frequency of repetitive DNA sequences)
  • Does not rule out most of the known genetic syndromes
  • cannot detect low level mosaicism (
29
Q

Exome Sequencing

A
  • selectively sequences the coding regions of a genome
  • used to identify novel genes and common genes
  • can be done in a tiered approach (slice)
  • CNVs are still a problem
  • presymptomatic testing as a consequence
30
Q

Services for the child with learning disabilities

A
  • Early Intervention
  • Specialized Developmental Treatment Programs (child development unit, children’s institute)
  • Psychologist/Psychiatrist
  • IEP: Individual Educational Program
  • Specialized Schooling
31
Q

Early Intervention Services

A
  • Assistive technology devices
  • Audiology services
  • Speech and language services
  • Counseling and training for a family
  • Medical and Nursing services
  • Nutrition services
  • Occupational and physical therapy
  • Psychological services
32
Q

All children with developmental disabilities should have

A
  • SNP oligonucleotide array analysis

- Molecular Fragile X testing

33
Q

Metabolic studies should be considered especially in cases of

A

regression

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