Primary prevention methods can help reduce the occurrence of mental retardation from certain conditions. Early screening through newborn screening can help detect treatable causes like phenylketonuria (PKU), galactosemia, and congenital hypothyroidism to prevent or reduce intellectual disability. Maintaining treatment protocols through dietary or medical management in PKU, galactosemia, maternal PKU, and congenital hypothyroidism is important for tertiary prevention. Genetic counseling can aid primary prevention for conditions with a genetic basis like Down syndrome, galactosemia, and PKU.

1. Dr Hussein Abdeldayem
Prof of Pediatric
Neurology
Mental
retardation

2. <3 ys = GDD
AAN

3. Investigation
s
 Intelligence quotient
(IQ) assessment =
mental age /
chronological age X
100
STANFORD BINNET
TEST
WESCHLER TEST

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. DD
Language disorder
Autism
Learning disability
Cerebral palsy
ADHD
Visual or hearing impairment
Degenerative disorders
Pseudo MR

6. False MR (PSEUDO MR)

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. 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. 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. IQ ≤70
Classification of MR
Severity IQ
Mild MR <70-50
Moderate MR <50-35
Severe MR <35-20
Profound MR <20

11. N IQ: 85 -110
 IQ between 71 – <85 :
border line
(slow learner) (
below average) ‫تعلم‬ ‫بطء‬

12. The causes of MR
 GENETIC CAUSES:
 Acquired:
 IDIOPATHIC

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

15. Cases of MR diagnosed by Face

16. 1

20. 2

22. 3

25. 4

33. 5

36. 6

37. 7

38. Fragile X syndrome
8

39. TREATMENT
Early intervention
Rehabilitation
tt of association

40. Early Intevention Programs
(EIP
 BRAIN
PLASTICITY
Management

41. Management

42. DS Rehabilitation

43. CP Rehabilitation

44.  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
Question

45.  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
Question

46.  9 months baby only coo, can’t sit, with
sissoring and increased deep tendon reflexes,
social smile. What is ur diagnosis?
Question
early spastic CP with global developmental delay

47.  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?
Question
Assure the parent. He is a normal child
as regard his developmental milestones
achievement

48.  3 causes of preventable MR,
how to detect and
their preventable measures
Question
Congenital Hypothyroidism
PKU
Galactosemia

50. By
Abdul Rahman bin Saad (60)
Abdul Rahim bin Ramdzan (61)
Abdul Rahim bin Suhaini (62)
Prevention of Mental Retardation

51. 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)

52. Primary Prevention
Abdul Rahman Bin Saad 60

54. Dr Hussein Abdeldayem
Alex University
Prevention
 Primary Prevention
 Secondary Prevention
 Tertiary Prevention
 Quaternary Prevention

55. Dr Hussein Abdeldayem
Alex University
Prevention
 Primary Prevention
prevent the occurrence of the disease
as: by immunization
by Genetic counseling
NO DISEASE
AR disorders
Infectious Disease as MMR, polio, etc

56. Dr Hussein Abdeldayem
Alex University
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, Galactosemia

57. Dr Hussein Abdeldayem
Alex University
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,
ABM

58. Dr Hussein Abdeldayem
Alex University
Prevention
 Quaternary Prevention
set of health activities that
diminish or avoid the
consequences of unnecessary
or excessive interventions in the
health system
cost
Swine Flu

59. Dr Hussein Abdeldayem
Alex University
AR Inheritance

60. Dr Hussein Abdeldayem
Alex University
Prevention and Neurologic disorders
 Down syndrome
 PKU
 Congenital hypothyroidism
 Galactosemia
 Congenital rubella syndrome ( GM )

61. Dr Hussein Abdeldayem
Alex University
Down syndrome
1ry (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 selection
?? Folic acid supplementa

62. Dr Hussein Abdeldayem
Alex University
Down Syndrome
2ry Prevention ( DS baby)
 9-12 wks GA:2
1- neck US
2- Blood: hCGTH, PaPPa, fetal RBC
3- Villous biopsy
 12 -16 wks GA:
1- triad: AFP. UOstriol, hCGTH
2- tetrad: triad + inhibin
 > 16 wks GA:
Amniocentesis

63. •Down
syndrome

64. Dr Hussein Abdeldayem
Alex University
DS
3ry Prevention
 EIP
 Echocardiography
 Visual acuity/y
 Thyroid function/y (TSH,T4)
 Tympanometry/y
 Neck X ray at 3-5 yrs*
*Neutral view, flexion &
extension

65. Dr Hussein Abdeldayem
Alex University
Galactosemia
Failure to thrive
vomiting
Galactusuria (sugar in
urine
AAuria, proteinuria

66. Dr Hussein Abdeldayem
Alex University
Galactosemia
 Milk lactose  G + Gal
Gal G
 AR
 galactosemia 1: (classic)
GALT Def (galactose 1p uridyl transferase)
 Galactosemia 2:
GALK (Galactase=galactokinase)
 Galactosemia 3:
GALE (uridyl diphosphogalactose- 4 –
epimerase)
Sugar excretion in infancy
Leloir 1970
Nobel prize
3 genes

67. Dr Hussein Abdeldayem
Alex University
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 cataract

68.  galactosemia
fluorometric assay Beutler assay

69. Guthrie test

70. Dr Hussein Abdeldayem
Alex University
PKU
 AR
 Gene on chromosome 12
 Enzyme deficiency: phenylalanine hydroxylase
 Types:
1- classic
2- cofactor BH4 (tetrahydrobiopterin )
3- mixed* : mild ( no disease)

71. Dr Hussein Abdeldayem
Alex University
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 urine
B- loading test: oral BH4 (20 MG/KG) then measure phenylalanine
C- enzyme assay
 mixed

72. Dr Hussein Abdeldayem
Alex University
C/P
Some CNS effects of untreated PKU include:
 mental retardation
 behavior problems, autism
 hyperactivity
 restlessness or irritability
 seizures
1- fair hair and skin
2- a “musty” or
“mousy” body
odor
3- Eczema

73. High-performance liquid chromatography
 phenylketonuria

74. Dr Hussein Abdeldayem
Alex University
PKU
PREVENTION
 1ry: genetic counseling AR
 2ry: a- neonatal screening
then low phenylalanine milk
 3ry: rehabilitation , diet resriction
LOW phenylalanine milk

75. Dr Hussein Abdeldayem
Alex University
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)
 SGA

76. Dr Hussein Abdeldayem
Alex University
Maternal PKU syndrome / Prevention
During pregnancy, they need to:
 stay on the low-Phe diet
 visit their PKU clinic on a regular basis
 have their blood Phe levels checked often

77. Congenital hypothyroidism

79. Early Signs of Congenital
Hypothyroidism
in the newborn
 Hypothermia.
 Sluggish & sleepy.
 Feeding difficulty.
 Respiratory difficulty.
 Mottling of the skin &
cold extremities.
 Constipation.
 Hypotonia.
 Large at birth.
 Wide fontanels.
 Posterior fontanel >0.5
cm.
 Umbilical hernia.
 Large tongue.
 Goiter may be present.
 Prolonged physiologic
jaundice
 Delayed passage of
meconium.

80. 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.

81.  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
Treatment

82. Dec 27,2003
Intra-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

Congenital Rubella Syndrome

83. Dr Hussein Abdeldayem
Alex University
Prevention
 Congenital Rubella Vaccine:
vaccine of all females against (at least 3 mo
preconception) of GM
LA vaccine
SC
Age: 12 mo age
5 year age

84. www.scc-osha.com
Facebook.com/‫للطفل‬ ‫التخصصى‬ ‫المركز‬

86. Etiology :
 1ry (genetic)
 2ry (acquired )
 Idiopathic

87. Etiology :
1ry (genetic)
1- hereditary: AR, AD,XL
2- chromosomal disorders
3- syndrome/dysgenesis

88. 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

89. EAR POSITION

90. LOW SET EARS

91. LOW SET EARS

92. LOW SET EARS

93. LOW SET EARS