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Prevetable cause of mental retardation

Prevetable cause of mental retardation

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Prevetable cause of mental retardation

  1. 1. Preventable cause of Mental Retardation Guide: Dr. Deepak Dwivedi Dr.Priyank Patel
  2. 2. Mental Retardation Mental retardation is defined as subaverage general intelligence, manifesting during early developmental period. The child has diminished learning capacity and does not adjust well socially. Now the term mental retardation has been replaced by Intellectual disability.
  3. 3. Intelligence quotient: It is calculated according to the formula Mental Age divided by chronological age, multiplied by 100.
  4. 4. Diagnostic criteria for intellectual disability A Significantly subaverage intellectual functioning: an IQ score of 70 or below on an individually administered IQ test(for infants, a clinical judgment of significantly subaverage intellectual functioning) B Concurrent deficits or impairments in present adaptive functioning (i.e.,the person’s effectiveness in meeting
  5. 5. The standards expected for his or her age by his or her cultural group) in at least two of the following areas: communication, self-care, home living, social and interpersonal skills, use of community resources,self- direction, functionalacademic skills, work,leisure, health, and safety. C The onset is before age of 18 years.
  6. 6. Grading of intellectual disability: Mild intellectual disability: IQ 50-55 to 70 Moderate intellectual disability IQ 35-40 to 50-55 Severe intellectual disability IQ 20-25 to 35-40 Profound intellectual disability IQ below 20-25 Intellectual disability, Severity unspecified, when there is strong presumption of intellectual disability but the person’s intelligence is untestable by standard tests.
  7. 7. Causes of Intellectual disability Prenatal factor: Aminoacidopathies: Organic acidemia, Phenylketonuria, hompcystinuria, histidinemia, organic aciduria Carbohydrate disorder: Glycogen storage disorder, glucose transport defect, galactosemia Chromosomal disorder: Down syndrome, fragile X syndrome, Klinefelter syndrome Iodine deficiency
  8. 8. Neuroectodermal dysplasia: Tuberous sclerosis Developmental defects: Microcephaly, craniostenosis, porencephaly, cerebral migration defect Maternal factor: Use of teratogens in first triamaster of pregnancy Intrauterine infection
  9. 9. Placental deficiency, toxemia of pregnancy, antepartum hemorrage Radiation during prenancy Natal factor: Birth injury Hypoxic ischemic encephalopathy Intracerebral hemorrhage
  10. 10. Post natal factor: Infection of central nervous system Head injury Thrombosis of cerebral vessels Post-vaccinal encephalopathies Kernicterus, hypoglycemia Hypoxia, hypothyroidism Malnutrition , child abuse autism
  11. 11. Development screening Phatak’s Baroda screening test: This is India’s best known development testing system but meant to used by child psychologist rather than physician. Denver development screening test: It has 4 domain i.e. gross motor, fine motor adaptive, language and personal social behavior
  12. 12. Trivandrum development screening chart: it is simplified adaptation of Baroda development screening system. applicable to children up to 2 year of age useful as a mass screening test. •Goodenough-Harris drawing test •Clinical adaptive test and clinical linguistic and auditory milestone scale (CAT/CLAMS)
  13. 13. Definitive test Bayley scale for infant development II it is the most commonly used scale. usually takes 30-60 min to assess Assesses language behavior, fine motor,gross motor, and problem solving skill, provides mental development index and psychomotor development index
  14. 14. Wechsler intelligence scale for children IV: The most commonly used psychological test for children >3 year of age Assesses verbal and performance skill Provide full scale IQ and indices of verbal comprehension perceptual reasoning workig memory and processing speed Other test like Stanford-Binet intelligence scale 5th edition
  15. 15. Factors affecting Development along with preventble cause of intellectual disability Prenatal factors: •Genetic factors: Intelligence of parents has direct correlation on the final IQ of the child. There are several genetic causes for development Delay and subsequent mental retardation.
  16. 16. (1)Neuro-Metabolic diseases: There are few neuro metabolic disorder which if diagnosed and treated timely can be prevent developmental delay in child.
  17. 17. (a)Phenylketonuria: This disorder is caused by deficiency of enzyme phenyl alanine hydroxylase. The affected infant is normal at birth. Profound mental retardation develop gradually if the infant remains untreated. Vomiting may be an early symptom.
  18. 18. The infant are lighter in their complexion than unaffected sibling. Neurological symptom include seizure, spasticity, hyperreflexia, and tremor. Microcephaly , Prominent maxillae with widely spaced teeth. Growth retardation
  19. 19. Diagnosis: Quantitative measurement of plasma phenylalanine concentration. Treatment: Should be treated with a phenyl restricted diet. Formula low or free of phenyalanine ar e commercially available.
  20. 20. (b)Galactosemia: Denotes elevated level of galactose in blood. caused mainly due to deficiency of (i) galactose-1-phosphate uridyl transferase (ii)galactokinase (iii) uridine diphosphate galactose-4-epimerase Clinacal feature: Jaundice hepatomegaly
  21. 21. Vomiting Hypoglycemia Seizure Lethargy, irritability Poor weight gain Hepatic failure Splenomegaly Mental retardation Ascitis
  22. 22. Diagnosis: The preliminary diagnosis is made by demonstrating a reducing substance in several urine specimens collected while the patient is milk or any other formula containing lactose. For confirmation quantitative measurement can be done Treatment: Non lactose containing diet
  23. 23. Hypothyroidism All inborn error of metabolism should be diagnosed at the earliest and should be treated.
  24. 24. Maternal factor: (i)Maternal malnutrition: deficiency of various micronutrient can adversely affect development of fetus and later on can have influence on infant development (ii)Exposure to drug and toxin: use of alcohol during pregnancy can affect mental development of infant.
  25. 25. Fetal Alcohol syndrome Occurs because of high level of alcohol ingestion during pregnancy. Clinical feature; Prenatal onset and persistence of growth deficiency facial abnormality including short palpebral fissure, epicanthal fold, maxillary hypoplasia,
  26. 26. micrognathia, smooth philtrum, smooth upper lip Cardiac defect primarily septal defect Minor joint and limb abnormalities Mental retardation Treatment: No specific therapy exists Prevention: By eliminating alcohol intake after conception.
  27. 27. Maternal smoking causes decreases in birth weight. Along with this it also cause defect in brain, heart and face, Use of cocaine and opioid during pregnancy can cause serious problem in fetus. Valproic acid can have severe defects in child Maternal exposure to radiation also have deleterious effect upon fetal developments
  28. 28. Maternal diseases and infection : Pregnancy induced hypertension Hypothyroidism Feto-placental insufficiency due to any cause Acquired infection e.g. toxoplasmosis, Rubella, CMV, herpes, Chorio-amniotis
  29. 29. (iii)Maternal infection: Among various infection one of the most imp. Is TORCH infection Toxoplasmosis: caused by Toxoplasma gondii, an obligate intracellular protozoan. There is a wide variety of manifestation:
  30. 30. May lead to hydrops foetalis and perinatal death Classical triad is Chorioretinitis Cerebral calcification Hydrocephalus Diagnosis: diagnosis can be done by culture or serological tests
  31. 31. Treatment: Pyrimethamine Sulfadiazine
  32. 32. Cytomegalo virus infection Congenital infection can manifest as IUGR Prematurity Hepatosplenomagaly Jaundice blueberry muffin like rash Thrombocytopenia Microcephaly intracranial calcification
  33. 33. Diagnosis: definitive method of diagnosis is virus isolation or demonstration of CMV DNA by PCR. Treatment: Ganciclovir, foscarnet, cidofovir
  34. 34. Neonatal Risk factor Intrauterine growth restriction: Adversely affect development Prematurity: Chances of developmental impairment increases with prematurity. More the child is premature more will be the risk. Mainly because of complications like intracranial bleed, white matter injury, hypoxia, hyper- bilirubinemia and hypoglycemia
  35. 35. Various metabolic derangement can affect child development like Hypoglycemia Hypocalcemia Hyperbilirubinemia Hyperthermia
  36. 36. Perinatal asphyxia: Studies have indicated that over 40% of survivor of significant asphyxia suffer from major neurocognitive disabilities. Incidence can be decreased by Institutional delivery, proper resuscitation, early stimulation therapy
  37. 37. Post natal factors : Infant and child nutrition: Early growth faltering (<24 month ) seems to be more detrimental to childhood development. Calorie deficeincy associated with multiple micronutrient and vitamins like zinc, vitamin A, B12, D, E contribute to developmental impairment.
  38. 38. Iron deficiency Associated with delayed brain maturation, poorer cognitive, motor and social emotional development Iodine deficiency it can lead to congenital hypothyroidism and irreversible mental retardation, making it the most common preventable cause of mental retardation. Infectious disease Diarrhoea, malaria, other parasitic infection and HIV
  39. 39. Environmental toxins Like lead, arsenic, pesticide, mercury, and polycyclic aromatic hydrocarbons Exposure may be prenatally through maternal exposure or postnatally through breast milk, food, water, house dust, soil
  40. 40. Acquired insult to brains: traumatic or infectious insult like meningitis, encephalitis, cerebral malaria and other factor like near drowning, trauma particularly during early years of life can have a permanent adverse effect on brain development. Associated impairment impairment particularly those involving sensory inputs from the eyes or ears can have a significant impact on attainment of milestone.`
  41. 41. Psychosocial factor Parenting: cognitive stimulation, caregiver’s sensitivity and affection have important role in child development. Higher level of maternal warmth and responsiveness are associated with higher cognitive ability and reduced level of behavioral problems in young children.
  42. 42. Poverty: this is possibly the most common underlying factor for impaired child development. Lack of stimulation: Social and emotional deprivation and lack of adequate interaction and stimulation is an important cause of developmental impairment.
  43. 43. Violence and abuse: Domestic and community violence can have profound psychological effect on the child. Maternal depression: it is negatively associated with child development. Institutionlization: Institutional care like orphanages during early life increases the risk of poor growth, ill health, attachment disorder
  44. 44. Protective factor: Breastfeeding: have protective and promotive effect on child development. Maternal education: has protective effect
  45. 45. Congenital Hypothyroidism •It is the most common preventable cause of mental retardation. •Iodine deficiency is the most common cause of congenital hypothyroidism.
  46. 46. Clinical feature: Most infant with congenital hypothyroidism are asymptomatic at birth due to transplacental passage of maternal T4. Despite having maternal thyroxine infant have low level of serum T4 and elevated TSH. Twice common in girls than boys
  47. 47. Birth weight and Height are normal but head size may be slightly increased. Prolongation of physiologic jaundice may be the earliest sign. Feeding difficulties especially sluggishness, lack of interest, somnolence and choking spell during nursing are often present. Respiratory difficulty due to large tongue Poor appetite, constipation Umbilical hernia
  48. 48. Temperature is subnormal. Large abdomen Edema of the genital and extremities Pulse is slow, heart murmur, cardiomegaly, pericardial effusion Macrocytic anaemia Congenital anomaly mostly cardiac Hearing loss Widely opened anterior and posterior fontenelle Neck short thick Hands are broad and fingers are short
  49. 49. Myxedema mainly in skin of eyelids, the back of the hands, and external genitalia. Development is delayed Hypotonia
  50. 50. Lab diagnosis: For Newborn Screening blood is obtained between 2 and 5 day of life by heel-prick. Serum level of T4 or free T4 are low; serum level of T3 may be normal and not helpful in diagnosis. If the defect is primarily in thyroid level TSH are elevated.
  51. 51. Radiological: • Retardation of osseous development can be seen. • The distal femoral epiphysis, normally present at birth, is often absent. • the epiphysis often have multiple foci of ossification. • Deformity of T12,L1, L2 is common. Electrocardiography may show low voltage P and T wave with diminished
  52. 52. Amplitude of QRS complex and suggest poor left ventricular function. Echocariography: Pericardial effusion may be seen. EEG: often shows low voltage MRI: normal
  53. 53. Treatment: Levothyroxine given orally is treatment of choice. the recommended initial starting dose is 10- 15ug/kg/day Neonate with more severe hypothyroidism should be started at the higher end of dosage range. Thyroid function test should be done at recommended interval usually monthly in first 6 month of age then at 2- 3 month interval.
  54. 54. Thyroid replacement should be stopped for one month at the age of 3 yr in suspected transient hypothyroidism. Treatment may be discontinued in the absence of persistent Abnormality on investigation and normal level of thyroid hormone.
  55. 55. Prognosis: Early diagnosis and adequate treatment from the first weeks of life result in normal linear growth and intelligence. Most severely affected children can have retarded skeletal maturation and have reduced IQ and can have other neurological consequences like hypotonia, hypertonia, incoordination, short attention span and speech problem
  56. 56. Prevention and control: Iodine disorder are best prevented as treatment is usually ineffective. Iodinated salt and iodized oil are highly efficacious in preventing iodine deficiency. The National Goiter Control Program of the Ministry of Health in India began in 1962 with establishment of iodination plant.
  57. 57. Prevention of Mental Retardation Examples of primary program to prevent intellectual disability include: Increasing the public’s awareness of the adverse effect of alcohol and other drugs of abuse on the fetus. Preventing teen pregnancy and promoting early prenatal care Preventing Traumatic injury: Encouraging the use of guards and railing to prevent fall and other avoidable injuries in the
  58. 58. Home ; using appropriate seat restraints when driving and wearing a safety helmet when biking ; teaching firearm safety Preventing Poisoning: Teaching parents about locking up medications and potential poison. Implementing immunization programs to reduce the risk of intellectual disability due to encephalitis, meningitis and congenital infection.
  59. 59. Newborn hearing screening programs.

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Prevetable cause of mental retardation


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