GLOBAL DEVELOPEMENTAL DELAY.pptx
- 1. GLOBAL DEVELOPEMENTAL DELAY & RELATED DISORDERS Moderated By Dr. Dilip Maheshawari Professor & Head of Department Neurology, GMC Kota Presented By Dr. Vaibhav Kumar Somvanshi 2nd yr Senior Resident Neurology GMC Kota
- 2. Outline 1. Introduction 2. Epidemiology 3. Developmental milestones 4. Etiology 5. Approach to aChild with Developmental Delay 6. Differential Diagnosis 7. Management 8. Resources
- 3. Introduction ◦ Child development refers to how a childbecomes ableto do more complex things asthey get older. ◦ Growth onlyrefers to the child getting bigger in size. • IntellectualDisability-deficits of adaptive function(Conceptual Skill, Social Skill, Practical Skill) and intellectual function (reasoning, learning, problem solving)with an age of onset before maturity is reached. 3Ds of Abnormalities of Development Delay – Performance >/1 domain significant below avg. Dissociation – Substantial difference in rate between >/2 domain Deviancy Milestones achieving out of sequence
- 4. Definition • GDD - children <5 yr of age - significant delay (>2 SD) in acquiring early childhood developmental milestones in 2 or more domains of development. domains include • receptive and expressive language, • gross and fine motor function, • cognition, • social and personal development, • activities of daily living.
- 5. Transient developmental delay ◦ Premature babies may show a delayin the area of sitting, crawlingand walkingbut then progress on at a normal rate. ◦ Other causes - related to physical illness, prolonged hospitalization, familystress or lack of opportunities to learn.
- 6. Persistent developmental delay ◦ Delay in development in one or more of the followingareas: understanding and learning moving communication hearing seeing. ◦ An assessment is often needed to determine what area or areas are affected. ◦ Disorders which cause persistent developmental delay are often termed developmental disabilities.
- 7. What are the Warning signs of a Global developmental delay ?
- 8. Environmental Factors that MayPlace a Child at Risk ◦ Living in families that are at lower socioeconomic levels; ◦ Living in families with varied cultural backgrounds; ◦ Living in families classified as dysfunctional; ◦ Being born to teenage mothers or mothers more than forty years old; ◦ Growing up in homes where English is not the primary language spoken: (racism?) ◦ Being exposed prenatally to viruses, drugs, or alcohol; ◦ Being born into families with other children who have developmental delays; ◦ Being born to mothers who were malnourished during pregnancy; ◦ Being born to mothers who have diabetes, thyroid disorders, syphilis, or other viral infections.
- 10. THANK YOU
- 11. • The Denver Developmental Screening Test - an efficient and reliable method for assessing development. • Rapidly assesses 4 different components of development: • Personal- Social • Fine motor adaptive • Language and • Gross motor.
- 13. Mimickers • Severe malnutrition • • Systemic illness • • Progressive hydrocephalus • • Parental misperception of attained milestones • • Side effects of drugs • • Emotional deprivation • • Emotional problems: depression
- 14. IMPORTANT CONSIDERATIONS • Are the clinical features referable only to the central nervous • system or to both the central and peripheral nervous • systems? • – Nerve or muscle involvement suggests mainly lysosomal • and mitochondrial disorders. • • Does the disease affect primarily the gray matter or the white • matter? • – Early features of • • Gray matter disease - personality change, seizures, and • dementia/cognitive decline. • • White matter disease - Focal neurological deficits, spasticity, • and blindness.
- 15. Differentiating features White matter disorders Gray matter disorders Age of onset Usually late (childhood) Usually early (infancy) Head size May have megalenchepal y Usually microcepaly Seizures Late , rare Early, severe Cognitive functions Initially normal Progressive dementia Peripheral neuropathy Early demyelination Late, axonal loss Spasticity Early, severe Later, progressive Reflexes Absent(neuropathy) or exaggerated(long tracts) Normal or exaggerated
- 16. Differentiating features White matter disorders Gray matter disorders Cerebellar signs Early, prominent late Fundal examination May show optic atrophy Retinal degeneration EEG Diffuse delta slowing Epileptic form discharges EMG Slowed nerve conduction velocity Usually normal Evoked potentials (VEP, ABR) Prolonged or absent Usually normal ERG Normal Abnormal
- 17. INHERITED CAUSES Gray matter involvement : A. with visceromegaly – GM1 Gangliosides – Niemann pick Disease – MPS – Gaucher disease B. without visceromegaly – Tay Sach disease – Rett Syndrome – Menke’s kinky hair disease White matter involvement – Metachromatic leukodystrophy – Krabbe disease – Adrenoleukodystrophy – Alexander disease
- 18. OBJECTIVE OF EVALUATION • Categorization of domains involved • Identification of possible underlying etiology • Referral to appropriate rehabilitation services • Management of associated co-morbidities • Multidisciplinary approach • Counselling
- 19. History • Birth history • Developmental history • Family history • H/o of consanguinity • Gestational history • Coexisting medical problems • Past medical history; treatment • Social history • Access to rehabilitation
- 20. BELIEVE IN HISTORY AND EXAMINATION !!! (GLOBAL DEVELOPMENTAL DELAY)
- 21. Rett syndrome • Females • Mutations in the gene encoding methyl-CpG-binding protein- 2, -- on chromosome Xq28 • Normal during 1st year • Aquired microcephaly, lack of interest in the environment & hypotonia, loss of language skills, gait ataxia, seizures, and autistic behavior. • Characteristic feature - loss of purposeful hand movements before the age of 3. • hand wringing movement, Repetitive blows to the face
- 22. HOMOCYSTINURIA • AR inheritance • complete deficiency of the enzyme cystathionine- b synthase • Two variants – – B 6 - responsive & – B 6 –nonresponsive
- 23. • Affected individuals appear normal at birth. • Neurological features - mild to moderate MR, ectopia lentis, and cerebral thromboembolism. • Developmental delay ( 50% cases) • Intelligence generally higher in B 6 –responsive cases. • The presence of either thromboembolism or lens dislocation strongly suggests homocystinuria. • Diagnosis - increased concentrations of plasma, Urine homocystine
- 24. TAY SACHS DISEASE • Initial symptom - between 3-6 months - an abnormal startle reaction (Moro reflex) to noise or light. •Delayed achievement of motor milestones or loss of milestones previously attained. • Cherry-red spot on macula present • By 1 year - severely retarded, unresponsive, and spastic. • 2nd year - head enlarges and seizures develop. • Most children die by 5 years of age.
- 25. • Diagnosis - psychomotor retardation and a cherry-red spot on the macula. • Demonstration of absent to nearly absent b - hexosaminidase • Management - Treatment is supportive
- 28. Etiology
- 29. ETIOLOGY
- 30. Red flag Sign • GM – Sitting with Support – 9 month -Standing with support – 12 m - Walking with support – 18 m • FM – Pincer Grasp – 12m -Scribbling – 24m • Social – Social smile – 6m - Waves bye bye – 12m • Language – Babbling – 12m - Single Word – 15-16m
- 32. Epidemiology • Globally, the prevalence of ID • 16.4 /1,000 persons in low-income countries, 15.9/1,000 middle-income countries, 9.2/1,000 in high-income countries. • ID occurs more in boys than in girls, • 2 : 1 in mild ID and 1.5 : 1 in severe ID.
- 33. Physical Examination Findings Short / Large Stature Obesity Macro/Microcephaly Dysmorphia Eye Signs Low set Ears Structural Heart Anomaly Organomegay Macroorchidism/Hypogonad Neurocutaneous Hirsuitism Hypo/Hypertonia Ataxia
- 34. Common Presentations of Intellectual Disability by Age AGE AREA OF CONCERN Newborn Dysmorphic syndromes, microcephaly Early infancy (2-4 mo) Failure to interact with the environment Concerns about vision and hearing impairments Later infancy (6-18mo) Gross motor delay Toddlers (2-3 yr) Language delays Preschool (3-5 yr) Language delays Behavior difficulties, Delays in fine motor skills School age (>5 yr) Academic underachievement Behavior difficulties (e.g., attention, anxiety, mood)
- 37. Treatable Intellectual Disability Endeavor (TIDE) Diagnostic Protocol Tier 1: Blood S. amino acids S.homocysteine S.Copper, ceruloplasmin Urine Organic acids Creatine metabolites Tier 2: Audiology Ophthalmology Cytogenetic testing Thyroid studies Metabolic testing Brain MRI Fragile X Targeted gene sequencing/molecular panel Tier 3: Specific biochemical/gene test Whole blood manganese Plasma 7- dehydroxycholesterol:c holesterol ratio Plasma very-long-chain fatty acids
- 38. COST OF VARIOUS TESTS AT LABS INDIA
- 41. Prevention • Increasing the public's awareness -alcohol and drugs of abuse • Encouraging safe sexual practices- preventing teen Pregnancy • Focus on preventive programs to limit transmission of Diseases-syphilis, toxoplasmosis, cytomegalovirus, HIV). • Preventing traumatic injury by encouraging the use of guards, railings, and window locks • Implementing immunization programs - reduce the risk of ID caused by encephalitis, meningitis
- 42. MANAGEMENT
Editor's Notes
- #3: Introduction - Definitions, Transient and Persistent developmental delays Epidemiology Developmental milestones: normal for age, Red warning signs Etiology: causes of global developmental delay, high risk children Approach to a Child with Developmental Delay: History, Physical exam, Investigations, Screening , diagnostic evaluation Differential Diagnosis- mimickers Management – Prevention, Treatment, Prognosis, Emerging therapies Resources – price list of various tests
- #4: Conceptual skills include language, reading, writing, . Social skills include interpersonal skills, personal and social responsibility, self-esteem,ability to follow rules, obey laws practical skills are performance of activities of daily living (dressing, feeding, toileting/bathing, mobility) GDD – Delay in 2 or more domain below 70% Dissociation – Substantial difference in rate between 2 or more Domain Eg – isolated speech delay Deviancy Milestones achieving out of sequence Eg- crawling comes before sitting
- #20: Birth history: – Term/preterm – Postnatal complications • Meningitis • Head trauma • kernicterus Developmental history: Timing of milestones,Current skill level in domains,Degree of independence in daily activities,Scholastic performance • Family history: – Family history of neurological disorder – Early or unexplained death • Gestational history – Prior pregnancies/ abortions/ Early postnatal deaths – Adverse perinatal events – hypoxia/hypoglycemia – Apgar, birth weight – Possible neonatal encephalopathy : seizures, feeding difficulty, obtundation
- #29: Congenital malformations of the CNS --Lissencephaly, holoprosencephaly Chromosomal abnormalities --Down syndrome, Turner syndrome Endogenous toxins --Maternal hepatic or renal failure Exogenous toxins from maternal use -- Anticonvulsants, anticoagulants, Fetal infection --Congenital infections Prematurity and/or fetal Malnutrition-- Periventricular leukomalacia Perinatal trauma Intracranial hemorrhage, spinal cord injury Perinatal asphyxia Hypoxic-ischemic encephalopathy Postnatal Examples Inborn errors of metabolism Aminoacidopathies, mitochondrial diseases Abnormal storage of metabolites Lysosomal storage diseases, glycogen storage diseases Abnormal postnatal nutrition Vitamin or calorie deficiency Endogenous toxins Hepatic failure, kernicterus Exogenous toxins Prescription drugs, illicit substances, heavy metals Endocrine organ failure Hypothyroidism, Addison disease CNS infection Meningitis, encephalitis CNS trauma Diffuse axonal injury, intracranial hemorrhage Neoplasia Tumor infiltration, radiation necrosis Neurocutaneous syndromes Neurofibromatosis, tuberous sclerosis complex Neuromuscular disorders Muscular dystrophy, myotonic dystrophy
- #34: Malnutrition turner noonan / Sotos syndrome Prader-Willi syndrome Canavan, sotos, alexander / Angelmann, rett syndrome, fetal alocohol Triangular face – turner , russell silver, Prominent nose- fragile X Cataract – gaactosemia, rubell Cherry red spot in macula – Metachromatic leukodystrophy Treacher collins syndrome, trisomies CHARGE syn, Velocardiofacial syn, Down synd MPS, Tay Sachs, Gaucher fragile X / Prader-willi TSC, NF – Café Au lait, adenoma sebasium Prader-willi, Down / Edward , Cerebral palsy
- #38: Tier 3 According to patient's symptomatology and clinician's expertise