mental retardation

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mental retardation

  1. 1. Mental retardationDr Hussein Abdeldayem Prof of Pediatric Neurology
  2. 2. <3 ys = GDD AAN
  3. 3. Investigations  Intelligence quotient (IQ) assessment = mental age / chronological age X 100 STANFORD BINNET TEST WESCHLER TEST
  4. 4. Investigation (cont.) Delay speech: Hearing assessment thyroid functions (T4, TSH Chromosomal study Brain CT &/or MRI Urine: screening for organic acids and amino acids, mucoplysacharides Blood: phenylalanine, lactic acid, ammonia, aminoacids
  5. 5. DD Language disorder Autism Learning disability Cerebral palsy ADHDVisual or hearing impairment Degenerative disorders Pseudo MR
  6. 6. False MR (PSEUDO MR)
  7. 7. MR diagnosis: 1- 1sr 3 years: Global Development Delay 2- preschool and school: Failure of academic achievement 3-Abnormal behavior or association: as hyperkinesia, self-injurious behavior, epilepsy
  8. 8. The associated deficits with MR Epilepsy Sensory deficits (e.g., Hearing Loss or visual troubles as squint or blindness), Communication disorders , autistic like features, Hyperkinesia, Attention Deficit Disorders Behavior disorders as aggressiveness, and self injurious behavior, Feeding problems, teeth problem. Cerebral palsy
  9. 9. EARLY SYMPTOMS “HISTORY” 1- excessive irritability 2-sleeping difficulties 3-feeding problems 4-jittery or jumpy 5- easily startled 6- stiffness when handled 7-paradoxical “precocious” development
  10. 10. Classification of MR IQ ≤70 Severity IQ Mild MR <70-50 Moderate MR <50-35 Severe MR <35-20 Profound MR <20
  11. 11. N IQ: 85 -110 IQ between 71 – <85 : border line (slow learner) ( below average)
  12. 12. The causes of MR  GENETIC CAUSES:  Acquired:  IDIOPATHIC
  13. 13. The causes of MR  GENETIC CAUSES: 1- hereditary: AR, AD, AR 2- chromosomal: DS 3- syndrome and brain dysgenesis  Acquired: 1- prenatal 2- perinatal 3- postnatal (acquired)  IDIOPATHIC
  14. 14. Cases of MR diagnosed by Face
  15. 15. 1
  16. 16. 2
  17. 17. 3
  18. 18. 4
  19. 19. 5
  20. 20. 6
  21. 21. 7
  22. 22. 8Fragile X syndrome
  23. 23. TREATMENTEarly interventionRehabilitationtt of association
  24. 24. Management
  25. 25. DS Rehabilitation
  26. 26. CP Rehabilitation
  27. 27. Question all of the following are FALSE about mental retardation except one: 1-IQ is less than 60 2- IQ is less than 70 3- IQ is less than 80 4- IQ is less than 90
  28. 28. Question the following cases are mental retardation that can be diagnosed from face features, except one: 1- Down syndrome 2- microcephaly 3- mucopolysaccharidoses 4- congenital hypothyroidism 5- cerebral palsy
  29. 29. Question 9 months baby only coo, can’t sit, with sissoring and increased deep tendon reflexes, social smile. What is ur diagnosis? early spastic CP with global developmental delay
  30. 30. Question 9 months baby with ability to hold things between thumb and index , say dada and papa , able to crawl. Parents are anxious . what is ur opinion? Assure the parent. He is a normal child as regard his developmental milestones achievement
  31. 31. Question 3 causes of preventable MR, how to detect and their preventable measures Congenital Hypothyroidism PKU Galactosemia
  32. 32. Prevention of Mental Retardation By Abdul Rahman bin Saad (60) Abdul Rahim bin Ramdzan (61) Abdul Rahim bin Suhaini (62)
  33. 33. Prevention of Mental Retardation Presentation Prepared by Abdul Rahman bin Saad (60) Abdul Rahim bin Ramdzan (61) Abdul Rahim bin Suhaini (62) Abdul Rashid bin Abdul Ghani (63) Ezza Syuhaida binti Zakaria (64)
  34. 34. Primary PreventionAbdul Rahman Bin Saad 60
  35. 35. Prevention Primary Prevention Secondary Prevention Tertiary Prevention Quaternary PreventionDr Hussein AbdeldayemAlex University
  36. 36. Prevention Primary Prevention prevent the occurrence of the disease as: by immunization by Genetic counseling NO DISEASE AR disorders Infectious Disease as MMR, polio, etcDr Hussein AbdeldayemAlex University
  37. 37. Prevention Secondary Prevention early detection of the disease for stopping or reversing its progress as: by prenatal diagnosis by newborn screening DISEASE NO or MILD CP PKU, Cong Hypothyroidism, GalactosemiaDr Hussein AbdeldayemAlex University
  38. 38. Prevention  Tertiary Prevention stop the development of complication of the previously diagnosed disease as: by EIP, by treating ABM with corticosteroid AND follow up for complications (ABR) DISEASE NO Complication EIP,Dr Hussein Abdeldayem ABMAlex University
  39. 39. Prevention  Quaternary Prevention set of health activities that diminish or avoid the consequences of unnecessary or excessive interventions in the health system cost Swine FluDr Hussein AbdeldayemAlex University
  40. 40. AR InheritanceDr Hussein AbdeldayemAlex University
  41. 41. Prevention and Neurologic disorders Down syndrome PKU Congenital hypothyroidism Galactosemia Congenital rubella syndrome ( GM )Dr Hussein AbdeldayemAlex University
  42. 42. Down syndrome1ry (no DS baby)  Translocated mother (4%) Risk 10% Risk 100% (21/21) Prevention: genetic counseling (prevent conception)  Non-Disjunction (95%) Risk: 1/1000 increase by: age or with a DS baby Prevention: avoid late age or frequent conception Recent: Pre-implantation selectionDr Hussein AbdeldayemAlex University ?? Folic acid supplementa
  43. 43. Down Syndrome 2ry Prevention ( DS baby) 9-12 wks GA:21- neck US2- Blood: hCGTH, PaPPa, fetal RBC3- Villous biopsy 12 -16 wks GA:1- triad: AFP. UOstriol, hCGTH2- tetrad: triad + inhibin > 16 wks GA:AmniocentesisDr Hussein AbdeldayemAlex University
  44. 44. •Downsyndrome
  45. 45. DS3ry Prevention EIP Echocardiography Visual acuity/y Thyroid function/y (TSH,T4) Tympanometry/y Neck X ray at 3-5 yrs* *Neutral view, flexion & extensionDr Hussein AbdeldayemAlex University
  46. 46. Galactosemia Failure to thrive vomiting Galactusuria (sugar in urine AAuria, proteinuriaDr Hussein AbdeldayemAlex University
  47. 47. Galactosemia Milk lactose  G + Gal Gal G Sugar excretion in infancy AR 3 genes Leloir 1970 galactosemia 1: (classic) Nobel prize GALT Def (galactose 1p uridyl transferase) Galactosemia 2: GALK (Galactase=galactokinase) Galactosemia 3: GALE (uridyl diphosphogalactose- 4 – epimerase)Dr Hussein AbdeldayemAlex University
  48. 48. Prevention 1ry: Genetic counseling AR 2ry: early Screening- blood and urine: increased gal and Gal 1 P - decreazed enzymes (UT, Galactokinase, epimerase) Prevention Lactose free milk 3ry: rehab, treat cataractDr Hussein AbdeldayemAlex University
  49. 49.  galactosemia fluorometric assay Beutler assay
  50. 50. Guthrie test
  51. 51. PKU  AR  Gene on chromosome 12  Enzyme deficiency: phenylalanine hydroxylase  Types: 1- classic 2- cofactor BH4 (tetrahydrobiopterin ) 3- mixed* : mild ( no disease)Dr Hussein AbdeldayemAlex University
  52. 52. PKU Classic: P Hydroxylase deficiency - blood: severe hyperphenylalaninemia >20 mg/dl Cofactor BH4 deficiency - normal phenylalanine in blood or mild raised - BH4 Cofactor for phenylalanine, tyrosine and tryptophan - diagnosis:A- measure neopterin and biopterin in urineB- loading test: oral BH4 (20 MG/KG) then measure phenylalanineC- enzyme assay mixedDr Hussein AbdeldayemAlex University
  53. 53. C/PSome CNS effects of untreated PKU1- fair hair and skin include: 2- a “musty” or mental retardation “mousy” body odor behavior problems, autism 3- Eczema hyperactivity restlessness or irritability seizuresDr Hussein AbdeldayemAlex University
  54. 54.  phenylketonuria High-performance liquid chromatography
  55. 55. PKUPREVENTION 1ry: genetic counseling AR 2ry: a- neonatal screening then low phenylalanine milk 3ry: rehabilitation , diet resriction LOW phenylalanine milkDr Hussein AbdeldayemAlex University
  56. 56. maternal PKU syndrome Pregnancy in women with PKU (“Maternal PKU”) Women with PKU who are not on the low-Phe diet when they become pregnant have a high chance of having babies with birth defects as congenital HD mental retardation microcephaly (recurrent) SGADr Hussein AbdeldayemAlex University
  57. 57. Maternal PKU syndrome / PreventionDuring pregnancy, they need to: stay on the low-Phe diet visit their PKU clinic on a regular basis have their blood Phe levels checked oftenDr Hussein AbdeldayemAlex University
  58. 58. Congenital hypothyroidism
  59. 59. Early Signs of Congenital Hypothyroidism in the newborn Large at birth.  Hypothermia. Wide fontanels.  Sluggish & sleepy. Posterior fontanel >0.5  Feeding difficulty. cm.  Respiratory difficulty. Umbilical hernia.  Mottling of the skin & Large tongue. cold extremities. Goiter may be present.  Constipation. Prolonged physiologic jaundice  Hypotonia. Delayed passage of meconium.
  60. 60. The Egyptian neonatal screening program• The cut-off point of the neonatal TSH (NTSH) > 15 µIU/ml• Serum TSH and free T4 in a venous sample is done for :  NTSH > 40 µIU/ml from the first sample.  NTSH > 15 ≤ 40 µIU/ml confirmed twice in two samples.
  61. 61. Treatment Sodium-L-thyroxine given orally is the treatment of choice. For infants, the starting dose usually is 12-15 ug/kg per day (37.5-50 µg/day). Children require 100 ug/m2/day. Thyroxine tablets should not be mixed with soy protein formula or iron, because these can bind T4 and inhibit its absorption
  62. 62. Congenital Rubella SyndromeIntra-Uterine Infection: Cong Rubella Syndrome: 1st 3 mo : 50% of fetus affected > 3mo : 15% of fetus affected CNS: MR, microcephaly, epilepsy SNHL Eyes: congenitaal cataract Cardiac: PDA organomagaly, SGA Dec 27,2003
  63. 63. Prevention Congenital Rubella Vaccine:vaccine of all females against (at least 3 mo preconception) of GMLA vaccineSCAge: 12 mo age 5 year ageDr Hussein AbdeldayemAlex University
  64. 64. www.scc-osha.comFacebook.com/
  65. 65. Etiology :  1ry (genetic)  2ry (acquired )  Idiopathic
  66. 66. Etiology :1ry (genetic) 1- hereditary: AR, AD,XL 2- chromosomal disorders 3- syndrome/dysgenesis
  67. 67. Etiology :Secondary ( Acquired) 1- prenatal :fetal disorder, gestational disease, maternal disease 2- perinatal : HIE, birth anoxia, neonatal sepsis, neonatal hemorrhage 3-Postnatal: meningitis/encephalitis, head trauma, IC hge, severe dehydration, severe chronic malnutrition
  68. 68. EAR POSITION
  69. 69. LOW SET EARS
  70. 70. LOW SET EARS
  71. 71. LOW SET EARS
  72. 72. LOW SET EARS

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