Screening, Evaluation and Referral of the Child with Developmental Delay. Objectives. 6 month WCC 05/02/2017. Common Childhood Problem Conference 2017

Transcription

1 Screening, Evaluation and Referral of the Child with Developmental Delay Common Childhood Problem Conference Objectives Review published AAP guidelines 1. Developmental Screening Algorithm (2006) 2. New Algorithm for MOTOR delay (2013) 3. Speech Delay 4. Intellectual/ Learning Disability (2014) 2 6 month WCC Parental concern with child s development: Not yet sitting up. Just started rolling. TIP: Can he put his foot in his mouth? 3 1

2 Reassure or Refer Physicians are often criticized for missing developmental delays. We see variations of normal. Subjectivity. Experience. Uncertainty. 4 Missed Milestone 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 sports Context of the family milieu. Delay vs. Disorder? 5 Surveillance and Screening aid in Decision making. REASSURANCE VS. ACTION 6 2

3 DO BOTH Surveillance and Screening 7 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 8 Developmental Domains Cognitive/ Learning Motor: Fine and Gross motor Communication: Articulation, Language, Pragmatic Adaptive skills: ADL s, Self help, play Emotional Regulation/ behavior 9 3

4 Developmental screening Recommended at 9, 18, 24/30 months Administration of a brief standardized screening tool. Ages and Stages most widely used 30 questions. Easy to score and interpret. 6 questions in 5 developmental domains month old Grandmother just got custody Here for WCC Growing well Child 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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6 Concerned? 16 D E V E L O P M E N T A L 17 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 OT Parents As Teachers Early Head Start program 18 6

7 Motor Delay vs. disorder? 18 month old not walking Pulls up Cruises 19 M O T O R 20 Classification of motor delay HYPOTONIA Often reflexes are low to no Lower motor neuron DMD Metabolic Mitochondrial Thyroid HYPERTONIA Often reflexes are brisk Upper motor neuron PVL Disorders of cerebral dysgenesis May roll early. May have poor central tone with increased peripheral tone. 21 7

8 Red Flags Loss of skills Dysmorphisms, organomegaly,heart failure, joint contractures. Respiratory insufficiency Fasciculations CK greater than 3 x normal Central vs. Peripheral Sign Peripheral Cause Central Cause Chest size Facial movement Tongue fasciculation May be small with bell shape Often weak myopathic with high arched palate May be present, particularly in SMA Usually normal Usually normal Absent Tone Reduced tone Reduced tone or increased tone with scissoring Deep Tendon Reflexes Decreased or absent Increased, may have clonus Gait Toe walking Waddling Hyperlordotic Toe walking Hemiparetic Spastic 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 24 8

9 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. 25 Conditions presenting with motor delay Cerebral palsy Muscular dystrophy Chromosome disorder 26 Where to refer this 18 month old? Crawls Pulls up Cruises Sacral sits Low tone 1. First steps- disability program 2. Direct therapy services 3. Head Start- At risk/ Low SES 4. Parents As Teachers 27 9

10 Speech 24 month old with 30 words Reassure Refer 28 MONTHS 6 to 9 Babbling 10 to 11 Imitation Types of sounds; says mama/dada of speech without meaningdelay 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 29 4 to 5 y Six to eight words per sentence; names four colors; counts 10 pennies correctly Communication Flags 4 months Lack of any drive to communicate 6 to 9 months Loss of the early ability to coo or babble Poor sound localization or lack of responsiveness 12 months No verbal routines Failure to use ma-ma or da-da Loss of previous language or social milestones 15 to 18 months No single words and Poor understanding of language 30 10

11 24 months Vocabulary less than 50 words No two-word phrases Less than 50% of speech intelligible to strangers 36 months Rote memorization of words or phrases Frequent immediate or delayed repetition of others speech Flat or stilted intonation More than 75% of speech unintelligible to strangers 48 months Inability to participate in conversation Stuttering of initial sounds 6-7 years immature or inaccurate sounds 31 Speech and Language Disorders Expressive Receptive Pragmatic Speech sound disorder Dysfluency Apraxia Dysarthria 32 Conditions associated with Communication delay Learning disability Intellectual disability Hearing loss Autism Expressive language disorder Receptive aphasia Bilingualism Psychosocial deprivation Cerebral palsy Genetic and neurologic conditions 33 11

12 20 Below Cutoff Does your child correctly use at least two words like me, I, mine, and you? Where to refer this 2 year old Audiology Speech evaluation Lead screen 35 5 year old WCC Parents and teacher concerned for ADHD. Knows some colors and letters Runs Jumps Climbs Trying to write name Follows some 2 step directions 36 12

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15 year old with ID/ LD MH, FH, ME, NE 45 15

16 I D 46 CMA Yield 12% Metabolic Tests 0-5% Blood homocysteine acylcarnitine profile amino acids;urine organic acids glycosaminoglycans, oligosaccharides purines, pyrimidines, GAA/creatine metabolites. MRI 7 % if ID/GDD 28 % with Neuro findings 215 XLID conditions have been recorded, and >90 XLID genes have been identified. 47 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 complications 7. 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 48 16

17 Where do we refer this 5 year old? Encourage family to ask school for IEP testing Direct ST and OT services Regional center services Evaluation with Thompson center 49 Clinical Services Provided by: Child Health 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 Peds Dean Lasseter- Autism medical clinic General Pediatrics South Providence Peds Patricia Koonce- Cerebral Palsy and Spina Bifida clinics Dr. Miles- Catatonia/ Down Syndrome Agreements with Dr. Cooperstock and Dr. Ilboudo for PANDAS and ZIKA clinics 50 Team Clinic Providers PMR/ RUSK: Dr. Emerson and Dr. Farid WCH/ MOI ORTHO: Dr. Gupta 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 Mannebach Orthotist: Lynn from Snyder Brace DME provider: Matt from Nu Motion 51 17

18 PSYCHIATRY TEAM Dr. Garima Singh Dr. John Hall Dr. Cyndy Mehrer Autism and Developmental psychiatry 52 Psychology Team Autism Assessments Dr. Knoop ADHD/ LD Dr. Brooks Dr. Kanne Dr. Nowell Dr. Mohrland Neuropsychology

19 Sources AAP 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 McQuiston et 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, Questions