children_with_Developmental_Delay_and_Intellectual

Approach to children_with_Developmental_Delay_and_Intellectual

1. Approach to children with Developmental Delay and Intellectual Disability Presenter- Dr. Miraj(R-III) Moderator Dr. Endayen D. (Pediatrician, Pediatric Neurologist) Dr. Meskerem   A.(Pediatrician, Pediatric Neurologist)

2. outline INTRODUCTION Definition epidemiology Etiology History Physical examination Diagnostic approach Prevention Treatment Developmental regression

3. GENERAL CONCEPTIONS AND CONSIDERATIONS WHEN APPROACHING A CHILD WITH SUSPECTED DEVELOPMENTAL DISABILITIES Child development, a general term relating to neurologic and psychological growth and development of a human being from birth to adulthood, Continuum starting in the prenatal period and extending throughout life, with Close and inevitable interaction with the environment. The traditional concept of development relates to six domains: gross motor, fine motor, receptive language, expressive language, problem-solving, and social-adaptive skills.

4. INTRODUCTION Developmental delay is on of the most reason for referral to pediatric neurology. 12-22% children in US have developmental or behavioral disorder. Developmental delay children who are recognized at early age receive more developmental interventions and have greater gains compared to children's identified later.

5. The first 2 years of life are the most striking developmentally. Hence, the various estimation tools used regard development in 3-month intervals in infants in 6-month intervals toddlers by school age, a yearly evaluation of a neurotypically developing child is customary. By then, focus shifts from the “classical” developmental benchmarks to academic skills as reflected by the child’s achievements at school.

6. Definitions Global developmental delay (GDD) GDD is a diagnosis given to children <5 yr of age Who display significant delay (>2 SD) in acquiring early childhood developmental milestones in 2 or more domains of development. Delay in 2 domains will be associated with delay across all domains Classification- Mild, Moderate & severe Motor delay -motor skill delay only. Usually both fine and gross motor skill are delayed Neuromuscular, musculoskeletal

7. Dissociation regards a discrepancy between different developmental domains. Deviance -non sequential achievement of millstones in one or more streams. Example; in spastic diplegic CP pt may walk before sitting

8. Intellectual disability (ID ) Group of disorders that have significant impairment in general intellectual function (reasoning, learning, problem solving), social skills, and adaptive behavior. Onset of symptoms before age 18 yr or adulthood Significant impairment in general intellectual function refers to performance on an individually administered test of intelligence that is 2 SD below the mean. IQ scores <70 would meet the criteria. .

9. ID… Significant impairment in adaptive behavior reflects the degree that the cognitive dysfunction impairs daily function. Adaptive behavior refers to the skills required for people to function in their everyday lives. Conceptual skills include language, reading, writing, time, number concepts, and self-direction. Social skills include interpersonal skills, personal and social responsibility, P ractical skills are performance of activities & instrumental activities of daily living, occupational skills

10. ID… For a deficit in adaptive behavior to be present, a significant delay in at least 1 of the 3 skill areas must be present. The rationale for requiring only 1 area is the empirically derived finding that people with ID can have varying patterns of ability and may not have deficits in all 3 areas.

11. ID… A diagnosis given to children >5 yr. Not all children who meet criteria for gdd go on to develop id after age 5 yr. Reasons for this might include Maturational effects, Change in developmental trajectory (possibly from an intervention), Reclassification to a different disability category, Imprecise use of the GDD diagnosis initially The term “mental retardation” is obsolete.

12. Epidemiology Overall rate of ID of 2%, 1.5% having mild ID (IQ of 50–70) and 0.5% having moderate or severe ID Prevalence of mild ID influenced by external environmental factors but prevalence of sever ID is stable. ID estimated to be 16.4 per 1,000 persons in low-income countries and 9.2/1,000 in high-income countries. M;F ratio 2 : 1 in mild ID and 1.5 : 1 in severe ID Many environmental factors affect the rate of Mild ID Low socioeconomic status

13. Etiology

14. Etiology… 60% of children with ID do not have identified causes With further genetic and metabolic workup, about two thirds will have an etiology. Congenital hypothyroidism caused by maternal dietary iodine deficiency and fetal alcohol syndrome remains the most common preventable cause world-wide. Chromosomal defects are common, and Down syndrome is the single most common known chromosomal cause.

15. Etiology… Mild ID is associated more with environmental influences , with the highest risk among children of low socioeconomic status. Severe ID is more frequently linked to biologic and genetic causes.

16. Clinical Manifestation There are no specific physical characteristics of ID Most children with ID first come to the pediatrician's attention in infancy because of Dysmorphisms, associated developmental disabilities , or Failure to meet age-appropriate developmental milestones They might fall within a genetic syndrome such as Down syndrome or might be isolated, as in microcephaly or failure to thrive. Associated developmental disabilities include seizure disorders, cerebral palsy, and ASD.

17. Syndromes and ID

18. History Antenatal Hx Antenatal care, antenatal U/S Gestational- DM, PIH, bleeding, infection Maternal drug- AED, alcohol, tobacco Fetal movement Perinatal HX PROM,maternal fever Timing of labor, duration, presentation Birth wt, APGAR Any NICU admission Any seizure, feeding difficulty.

19. History Developmental HX Age when developmental concerns first noted. Which domain of initial parental concern Developmental trajectory in each domain Progression in affected domain Present skill level of the child. Dev’tal status at a specific personal milestone. Regression-neurodegenerative Socialization Play skills Comorbidities Family history 3 generation pedigree of child's family; search for other affected family. Paternal consanguinity. Mothers prior gestational Hx, pregnancy loss, early neonatal, infantile death.

20. Physical Examination General appearance Short stature -Malnutrition, Turner, Noonan Obesity -Prader- Willi syndrome Large stature - Sotos syndrome HEENT HEAD Flat occiput- Down synd , Zellweger syndrome; prominent occiput- trisomy 18 Delayed closure of sutures:-hypothyroidism, hydrocephalus Craniosynostosis:-Crouzon syndrome, Pfeiffer syndrome Delayed fontanel closure- hypothyroidism, Down syndrome, hydrocephalus

21. Physical Examination… Face Midface hypoplasia- fetal alcohol synd , Down synd Triangular facies- Russell-Silver syndrome, Turner syn Coarse facies -mucopolysaccharidoses, Sotos syndrome Prominent nose and chin- fragile X synd. Flat facies- Apert synde, Stickler synd. Round facies - Prader- Willi syndrome Eyes Hypertelorism : Hypotelorism : slanted palpebral fissures: trisomies Prominent eyes: Apert syndrome Blue sclera: osteogenesis imperfecta, Turner,hereditary connective tissue disorder Cataract,telangectasia Chorioretinitis,lens dislocation. Ears Large pinnae /simple helices -fragile X syndrome Malformed pinnae / atretic canal- CHARGE syndr Low-set ears:

22. Physical Examination… Nose Low nasal bridge: achondroplasia , Down syndrome Prominent nose: Coffin-Lowry syndrome, Smith- Lemli - Opitz syndrome Mouth Long philtrum /thin vermilion border: fetal alcohol effects Cleft lip and palate: isolated or part of a syndrome Micrognathia : Pierre Robin sequence, trisomies , Stickler syndrome Macroglossia : hypothyroidism, Beckwith- Wiedemann syndrome Teeth Anodontia : ectodermal dysplasia Notched incisors: congenital syphilis Late dental eruption: Hunter syndrome, hypothyroidism Wide-spaced teeth: Cornelia de Lange syndrome, Angelman syndrome

23. Physical Examination… Extremities Short limbs- achondroplasia , rhizomelic chondrodysplasia Small hands- Prader- Willi syndrome Clinodactyly- trisomies Polydactyly- trisomy 13, ciliopathies Broad thumb-Rubinstein- Taybi syndrome Transverse palmar crease -Down sy Joint laxity-Down syndrome, fragile X syndrome, Ehlers-Danlos syndrome Spine Sacral dimple/hairy patch . Neck Webbed neck/low posterior hairline: Turner, Noonan Chest Shield-shaped chest: Turner Genitalia Macroorchidism-fragile X s Hypogonadism - Prader- Willi syndr Skin Hypopigmented macules Café au lait spots and neurofibromas : Facial port-wine hemangioma Nail hypoplasia or dysplasia: fetal alcohol syndrome, trisomie

24. Physical Examination… Neurologic examination Social interaction with parents and examiner Language/cognition Visual and auditory assessment Motor examination Focal finding Dyskinesias Coordination/motor planning Gait/balance

25. DIAGNOSIS Etiologic workup is recommended in all cases of GDD or ID. Accurate diagnosis helps Understand the specific medical and psychiatric complications. Increased access to services or specific supports. Aid in family counseling, Limit further diagnostic testing, Information on prognosis and life expectancy Estimation of recurrence risk Confirm legal recognition of disability.

26. Conti….. Questions to be answered before ordering diagnostic test What is the current developmental level in each domain in relation to chronological age? What type of developmental issue? Global,motor,language,social? Is static or progressive?. What is the current rehabilitation and social status?. What was the possible time {pre , peri or post natal} of any potential underling etiology?. Is there a likely underling etiology? Structural,genetic,chromosomal,birth related.

27. Conti…. Intellectual disability is one of the most frequent reasons for referral to pediatric genetic providers. Genomic Microarray- detects copy number changes in the genome, usually with a resolution of 30 kb or less. identify interstitial copy number variants. A 15% yield overall Better resolution than with karyotyping; may identify up to twice as many abnormalities as karyotyping. CMA give positive diagnostic yields of 7% to 8%, above that seen via karyotypes. Karyotype- Yield of 4% in ID/GDD (18.6% if syndromic features, 3% excluding trisomy 21).

28. Conti….. Whole- Exome Sequencing- extensive gene panels. the rate of identification increased to 36% to 40%, exceeding that seen for CMA or karyotypes. Detects inherited and de novo point mutations. Fragile X screen- Combined yield of 2%. Recommended for all children presenting with GDD. MECP2 for Rett syndrome- 1.5% of females with criteria suggestive of Rett (acquired microcephaly , loss of skills). Advances in Imaging- 50% of children with developmental delay, including the identification of polymicrogyria, pachygyria, lissencephaly, callosal agenesis, and periventricular nodular heterotopia.

29. Conti….. Metabolic testing Yield of 0.2–4.6% based on clinical indicators and tests performed Urine organic acids, plasma amino acids, ammonia, lactate, and capillary blood gas. Focused testing based on suggestive history/exam (e.g., regression, consanguinity, hepatosplenomegaly, course facies). TFT,CBC

30. Conti….. How intensively one investigates the cause of ID is based on the following factors What is the degree of delay, and what is the age of the child ? If milder delays are present, in a younger child, etiologic yield is likely to be lower. 2. Is the medical history, family history, or physical exam suggestive of a specific disorder, increasing the likelihood that a diagnosis will be made? Are the parents planning on having additional children?, prenatal diagnosis or a specific early treatment option. 3. What are the parents' wishes?

31. DDX cerebral palsy - from ID relies on motor skills being more affected than cognitive skills and on the presence of pathologic reflexes and tone changes. autism spectrum disorders,- language and social adaptive skills are more affected than nonverbal reasoning skills, In ID, more equivalent deficits. Sensory deficits, communication disorders, refractory seizure disorders.

32. Prevention of ID Increasing the public's awareness of the adverse effects of alcohol and other drugs of abuse. safe sexual practices, preventing teen pregnancy, and promoting early prenatal care. to limit transmission of diseases that may cause congenital infection. Preventing traumatic injury Preventing poisonings by teaching parents immunization programs to reduce the risk of ID caused by encephalitis, meningitis, and congenital infection. thyroid, vision, and hearing screening in a child with Down syndrome. newborn screening

33. Treatment No medication has been found that improves the core symptoms of ID. medication is most useful in the treatment of associated behavioral and psychiatric disorders. Including ADHD (stimulant medication), self-injurious behavior and aggression (antipsychotics), and anxiety, obsessive-compulsive disorder, and depression ( SSRI). Even if a medication proves successful, its use should be reevaluated at least yearly to assess the need for continued treatment.

34. Supportive Care and Management The role of the pediatrician includes involvement in prevention efforts, early diagnosis, identification of associated deficits, referral for appropriate diagnostic and therapeutic services, Interdisciplinary management, provision of primary care, and advocacy for the child and family. The management strategies for children with an ID should be multimodal, with efforts directed at all aspects of the child's life.

35. Primary Care Provision of the same primary care received by all other children of similar chronological age. Anticipatory guidance relevant to the child's level of function: feeding, toileting, school, accident prevention, sexuality education. Assessment of issues that are relevant to that child's disorder, such as Dental examination in children who exhibit bruxism. Thyroid function in children with Down syndrome. Cardiac function in Williams syndrome.

36. Reevaluation should be undertaken at routine intervals ,every 6-12 mo during early childhood. The educational program must be relevant to the child's needs and address the child's individual strengths and weaknesses.

37. Family Counseling Many families adapt well to having a child with ID, but some have emotional or social difficulties. The risks of parental depression and child abuse and neglect are higher. family counseling, parent support groups, respite care, and home health services should be an integral part of the treatment plan.

38. Cognitive and Motor Regression

39. Definitions Regression or loss of milestones- should suggest a progressive encephalopathy caused by an inborn error of metabolism, including disorders of energy metabolism and storage disorders, or a neurodegenerative disorder. Progressive encephalopathies (PE) are diseases that cause a gradual decline in cognitive and motor function over time. PE refer to disorders that cause progressive CNS injury and loss of function , affecting multiple domains (i.e., cognitive, affective, psychomotor, social, perceptual, and linguistic).

40. EPIDEMIOLOGY Etiologies were most often metabolic (66% ) or neurodegenerative (32%) , but 20% of cases remained unclassified. A decreasing incidence was seen with age, Far more neonatal onset cases were metabolic (46%) than neurodegenerative (7%) in nature .

41. DIAGNOSTIC EVALUATION the diagnostic approach may be the same as for children with GDD or ID. Developmental History The clinical features most suggestive of a PE—the gradual loss of previously acquired skills and the gradual emergence of neurologic signs and symptoms after a period of normal development—are more readily observed when they are of later onset and when they progress more rapidly. Family History family history of developmental delay, intellectual disability, learning disability, early deaths, and seizures . A three-generation pedigree should be obtained. Consanguinity

42. DIAGNOSTIC… Maternal History; Previous stillbirths, neonatal deaths, or infant deaths Exposure in utero to teratogens. Neonatal History; Environmental History; Lead encephalopathy and pica, hydrocarbon exposure

43. DIAGNOSTIC… General Medical History hypothyroidism and hyperthyroidism;developmental regression and movement disorders. Addison disease and Cushing Syndrome are associated with a progressive encephalopathy. Hashimoto encephalopathy HIV-encephalopathy subacute sclerosing panencephalitis Autoimmune encephalopathies (e.g., NMDA receptors). vitamin deficiencies (e.g., thiamine, niacin, biotin, folate, and vitamin E)

44. Rett Syndrome It i s a n x- li nked dom i nant ge n et i c disorder It i s l argely sporadic More t h an 95% of f emales meeting RS consens u s criteria will have mutations ln MECP2. MECP2, located at X q28 The mutat i on appears to result in problems w i th the protein production crit i ca l for brain development.

45. Clinical Manifestations Microcephaly Loss of normal Movement and coordination Loss of communication abilities Abnormal hand movements Unusual eye movements Breathing problems Cognitive disabilities Seizures Abnormal curvature of the spine Irregular heartbeat Pain

46. Stag e 1: early onset . Starts 6 - 18 months Stage 2: rapid destruction Stag e 3: plateau Stag e 4: lat e motor deterioration

47. Treatment There is no currently targeted treatment or gene therapy Supportive care Physical therapy Occupational therapy Speech-language therapy Nutritional support Behavioral intervention Support services

48. Diagnostic Aproach

49. MANAGEMENT Including rehabilitation specialists, nutritionists, special education instructors, and speech, occupational, and physical therapists. social support networks

50. REFERENCE SWEIMAN NELSON 21TH EDITION UPTODATE 2023