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05/02/2017
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Screening, Evaluation and Referral of the Child with
Developmental Delay
Common Childhood Problem Conference 2017
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ObjectivesReview published AAP guidelines
1. Developmental Screening Algorithm (2006)
2. New Algorithm for MOTOR delay (2013)
3. Speech Delay4. Intellectual/ Learning Disability (2014)
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6 month WCCParental concern with child’s development:
Not yet sitting up. Just started rolling.
TIP:Can he put his foot in his mouth?
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Reassure or Refer
Physicians are often criticized for missing developmental delays.
We see variations of normal.
Subjectivity. Experience. Uncertainty.
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Predictor of pathology vs. normal variant?
Is this a person who will still learn to drive a car and will be able to hold a job?
Recreational vs. Competitive sportsContext of the family milieu.
Delay vs. Disorder?
Missed Milestone
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REASSURANCE VS. ACTION
Surveillance and Screening aid in Decision making.
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DO BOTH
Surveillance and Screening
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Developmental surveillance 1. Eliciting parental concerns about their child's
development
2. Documenting child’s developmental history
3. Observations of the child
4. Identifying risk and protective factors
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Developmental Domains
• Cognitive/ Learning• Motor: Fine and Gross motor• Communication: Articulation, Language,
Pragmatic• Adaptive skills: ADL’s, Self help, play• Emotional Regulation/ behavior
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Developmental screening
Recommended at 9, 18, 24/30 monthsAdministration of a brief standardized
screening tool.
Ages and Stages most widely used30 questions. Easy to score and interpret. 6 questions in 5 developmental domains.
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18 month old
Grandmother just got custodyHere for WCC
Growing wellChild points, follows some directions.Has about 5 words. Plays with stuffed animal. He walks and runs. Scribbles. Interested in other children.
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Concerned?
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DEVELOPME NTAL
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Where do you refer an18 month old?
First steps (50% delay) ??A developmental delay, as measured by appropriate diagnostic measures and procedures emphasizing the use of informed clinical opinion, is defined as a child who is functioning at half the developmental level that would be expected for a child developing within normal limits and of equal age.
Direct therapy services: Rx ST OTParents As TeachersEarly Head Start program
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MotorDelay vs. disorder?
18 month old not walking
Pulls upCruises
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MOTOR
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Classification of motor delay
HYPOTONIAOften reflexes are low to no
Lower motor neuron
DMDMetabolicMitochondrialThyroid
http://www.childmuscleweakness.org/
HYPERTONIAOften reflexes are brisk
Upper motor neuron
PVLDisorders of cerebral dysgenesis
May roll early. May have poor central tone with increased peripheral tone.
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Red Flags
Loss of skillsDysmorphisms, organomegaly,heart failure, joint contractures.Respiratory insufficiencyFasciculations CK greater than 3 x normal
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Central vs. PeripheralSign Peripheral Cause Central Cause
Chest size May be small with bell shape
Usually normal
Facial movement Often weak “myopathic” with high arched palate
Usually normal
Tongue fasciculation May be present, particularly in SMA
Absent
Tone Reduced tone Reduced tone or increased tone with
scissoring
Deep Tendon Reflexes Decreased or absent Increased, may have clonus
Gait Toe walkingWaddling
Hyperlordotic
Toe walkingHemiparetic
Spastic
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Rational for CK Testing• Starting point in evaluation of motor delay,
even if cognitive delay is more of a concern• Helps focus further testing and referrals • Quick and inexpensive• Results help differentiate between disorders
that cause weakness– Central (normal CK)– Peripheral (CK may be elevated)
• Elevated in D/BMD, some CMDs, some LGMDs• Mildly elevated or normal in SMA, neuropathies,
congenital myopathies
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Other Uses of CK Testing• If transaminases (AST and ALT) are
elevated, check CK. – AST/ALT come from muscle or liver– CK comes only from muscle– CK test helps localize the problem and prevent
unnecessary liver tests• Many neuromuscular conditions increase risk
of malignant hyperthermia with anesthesia use. Anticipated surgery should increase the urgency of a CK testing and diagnostic evaluation.
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Conditions presenting with motor delay
Cerebral palsyMuscular dystrophyChromosome disorder
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Where to refer this 18 month old?
Crawls Pulls up CruisesSacral sitsLow tone
1. First steps- disability program2. Direct therapy services3. Head Start- At risk/ Low SES4. Parents As Teachers
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Speech
24 month old with 30 words
Reassure Refer
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Types of speech delayMONTHS
6 to 9 Babbling
10 to 11 Imitation of sounds; says “mama/dada” without meaning
12 Says “mama/dada” with meaning; often imitates two- and three-syllable words
13 to 15 Vocabulary of four to seven words in addition to jargon; < 20% of speech understood by strangers
16 to 18 Vocabulary of 8-10 words; some echolalia and extensive jargon; 20% to 25% of speech understood by strangers
19 to 21 Vocabulary of 20 words; 50% of speech understood by strangers
22 to 24 Vocabulary > 50 words; two-word phrases; dropping out of jargon; 60% to 50% of speech understood by strangers
2 to 2 ½ y Vocabulary of 200+ words TNTC, including names; two- to three-word phrases; use of pronouns; diminishing echolalia;
2½ to 3 y Use of plurals and past tense; knows age and sex; counts three objects correctly; three to five words per sentence; 75% of speech understood by strangers
3 to 4 y Three to six words per sentence; asks questions, converses, relates experiences, tells stories; almost all speech understood by strangers
4 to 5 y Six to eight words per sentence; names four colors; counts 10 pennies correctly
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Communication Flags4 months
Lack of any drive to communicate6 to 9 months
Loss of the early ability to coo or babblePoor sound localization or lack of responsiveness
12 monthsNo verbal routinesFailure to use ma-ma or da-daLoss of previous language or social milestones
15 to 18 monthsNo single words and Poor understanding of language
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24 monthsVocabulary less than 50 wordsNo two-word phrasesLess than 50% of speech intelligible to strangers
36 monthsRote memorization of words or phrasesFrequent immediate or delayed repetition of others speechFlat or stilted intonationMore than 75% of speech unintelligible to strangers
48 monthsInability to participate in conversationStuttering of initial sounds
6-7 years immature or inaccurate sounds
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Speech and Language Disorders
ExpressiveReceptivePragmaticSpeech sound disorderDysfluencyApraxiaDysarthria
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Conditions associated with Communication delayLearning disabilityIntellectual disabilityHearing lossAutismExpressive language disorder Receptive aphasia BilingualismPsychosocial deprivationCerebral palsyGenetic and neurologic conditions
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6. Does your child correctly use at least two words like “me,” “I,” “mine,” and “you?
20 Below Cutoff
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Where to refer this 2 year old
AudiologySpeech evaluation Lead screen
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5 year old WCC
Parents and teacher concerned for ADHD.
Knows some colors and lettersRuns Jumps ClimbsTrying to write nameFollows some 2 step directions
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5 year old with ID/ LD
MH, FH, ME, NE
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ID
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CMA Yield 12%
Metabolic Tests 0-5%Blood homocysteine acylcarnitine profileamino acids;urine organic acidsglycosaminoglycans, oligosaccharidespurines, pyrimidines, GAA/creatine metabolites.
215 XLID conditions have been recorded, and >90 XLID genes have been identified.
MRI 7 % if ID/GDD28 % with Neuro findings
www.Rarechromo.org
http://www.rarechromo.org/html/DisorderGuides.asp
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The Purposes of the Comprehensive Medical Genetics Evaluation of the Young Child With GDD or ID
1. Clarification of etiology 2. Provision of prognosis or expected clinical course 3. Discussion of genetic mechanism(s) and recurrence risks 4. Refined treatment options 5. Avoidance of unnecessary or redundant diagnostic tests.6. Information regarding treatment, symptom management, or
surveillance for known complications7. Provision of condition-specific family support 8. Access to research treatment protocols 9. Opportunity for comanagement of appropriate patients in the
context of a medical home to ensure the best health, social, and health care services satisfaction outcomes for the child and family
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Where do we refer this 5 year old ?
Encourage family to ask school for IEP testingDirect ST and OT servicesRegional center servicesEvaluation with Thompson center
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Kristin Sohl- Autism medical Clinic, Autism Diagnostic Entry Clinic Tracy Stroud- Special Needs, NICU follow up, CP, AMC, ADEC, Craniofacial Clinic, DEV
Theresa Swenson- SNC, NICU follow up, Spina bifida, Developmental/ ADHD
Meg Wang- Autism medical clinic General Pediatrics at South Providence PedsDean Lasseter- Autism medical clinic General Pediatrics South Providence Peds
Patricia Koonce- Cerebral Palsy and Spina Bifida clinics
Dr. Miles- Catatonia/ Down SyndromeAgreements with Dr. Cooperstock and Dr. Ilboudo for PANDAS and ZIKA clinics
Clinical Services Provided by:
Child Health
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Children’s therapy Center therapists staff the NICU clinic and CP clinics:PT, OT, ST, Assistive Tech/ Aug Com.
Nutrition WCH: Sheila Chapman and Kim MannebachOrthotist: Lynn from Snyder Brace DME provider: Matt from Nu Motion
Team Clinic Providers
PMR/ RUSK: Dr. Emerson and Dr. FaridWCH/ MOI ORTHO: Dr. Gupta
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Autism and Developmental psychiatry
PSYCHIATRY TEAM
Dr. Garima Singh Dr. John Hall Dr. Cyndy Mehrer
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Autism Assessments
Psychology Team
Dr. Knoop – ADHD/ LD
Dr. Mohrland – Neuropsychology
Dr. Brooks Dr. Kanne Dr. Nowell
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• Evaluation and management of language and speech disorders in preschool children.Heidi M Feldman, Pediatr Rev, 2005
• The floppy infant: evaluation of hypotonia. Dawn E Peredo et al., Pediatr Rev, 2009
• Speech and language development: monitoring process and problems. Susan McQuistonet al., Pediatr Rev, 2011
• Motor Delays: Early Identification and Evaluation: Pediatrics. Garey H. Noritz, Nancy A. Murphy et al, Pediatr Rev, 2013
• Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays From the American Academy of Pediatrics | Pediatri Rev, 2014
Sources AAP
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Questionshttps://www.youtube.com/watch?v=GbSp88PBe9E&feature=share