Diagnostic Approach to Developmental Delay. Dr Kang Ying Qi Consultant Developmental Pediatrician 20 May 2017
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1 Diagnostic Approach to Developmental Delay Dr Kang Ying Qi Consultant Developmental Pediatrician 20 May 2017
2 What is development? Young Baby Adulthood Wide variation between children Variation between domains in same child Developmental delay An information guide for parents Royal Children Hospital Melbourne
3 Rule: Variable and Progressive Development Time (years) Developmental delay An information guide for parents Royal Children Hospital Melbourne
4 What is Developmental Delay?
5 What is Developmental Delay? Development substantial lag Time (years)
6 Developmental Quotient (DQ) Developmental age Chronological age X 100 = DQ DQ < 70 indicates developmental delay
7 Red flags in evaluation of children with Neuromotor delay
8 Referral Guidelines : Speech Delay
9 Guidelines on Identification of Children with ASD Identification and Evaluation of Children With Autism Spectrum Disorders Paediatrics November 2007
10 Developmental Trajectory Development X X X X X X X X X X X X Time (years)
11 Developmental Trajectory Developmental Delay Transient Developmental delay Typical Developmental Persistent Developmental delay Developmental Disability
12 1. Environmental causes of DD are real
13
14 Stress
15 Nurturing & Stable & Engaging relationships
16
17 Unplug
18 DDx of hypotonia in infancy A schematic approach to hypotonia in infancy JoAnna Leyenaar, MD MPH, Peter Camfield, MD FRCPC, and Carol Camfield, MD FRCPC
19 Approach to Investigations General Investigations: TSH, free T4, electrolytes (& Ca) CNS Dysfunction : CT/MRI head, consider EEG, consult neurology and consider karyotype Metabolic Disease : urine and serum amino acids, urine organic acids, ammonia, liver function tests Lower motor neuron disease : creatine kinase, referral to neurology for specialised test A schematic approach to hypotonia in infancy JoAnna Leyenaar, MD MPH, Peter Camfield, MD FRCPC, and Carol Camfield, MD FRCPC
20 2. Motor Delay warrants closer attention
21 Fe def anemia affects development Summary: Implications for Research and Programs Rebecca J. Stoltzfus Center for Human Nutrition, Department of International Health, School of Hygiene and Public Health, The Johns Hopkins University, Baltim Iron deficiency and impaired child development The relation may be causal, but it may not be a priority for intervention. Haroon Saloojee, senior lecturer and John M Pettifor, professor
22 Low vitamin D status & development In utero post natal early childhood Vitamin D and Autism Spectrum Disorder: A Literature Review Hajar Mazahery, Carlos A. Camargo, Jr. and Pamela R. von Hurst The effects of vitamin D on brain development and adult brain function Molecular and Cellular Endocrinology December 2011
23
24 Alstrom Syndrome Feature Age of Onset Range (Mean) Incidence Cone-rod dystrophy Birth - 15 mos (5 mos) 100% Obesity Birth - 5 years (2.5 yrs) 98% Progressive sensorineural hearing loss 2-25 yrs (9 yrs) 88% Dilated cardiomyopathy 2 wks - 4 mos 42% Restrictive cardiomyopathy Juvenile - late 30s 18% Insulin resistance / type 2 diabetes mellitus 4-30 yrs / 8-40 yrs (16 yrs) 92% / 68% Developmental delay Birth-adolescence 25%-30% Short stature Puberty - adult 98% Hypogonadotropic hypogonadism 10+ yrs 78% of males Urologic disease Adolescence - adult 48% Renal disease Adolescence - adult Hepatic disease 8-30 yrs 23%-92% Variably progressive with age in all individuals Based on a study of 182 patients by Marshall et al [2005]
25 3. Hearing screen is important (despite newborn hearing screen)
26 Hearing lost is difficult to diagnose clinically. Use risk stratification instead. AAP Clinical Report Hearing Assessment in Infants and Children: Recommendations Beyond Neonatal Screening Pediatrics 2009
27 Risk Indicators Associated With Permanent Congenital, Delayed-Onset, and/or Progressive Hearing Loss in Childhood Caregiver concerns regarding hearing, speech, language delay developmental delay Warrants objective hearing assessment AAP Clinical Report Hearing Assessment in Infants and Children: Recommendations Beyond Neonatal Screening Pediatrics 2009
28 Thank You. Questions?
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