Lesson 2 Intellectual Disability.pdf

INTELLECTUAL DISABILITY LESSON 2 Intellectual Disability ◦a group of disorders that have in common deficits of adaptive and intellectual function and an age of onset before maturity is reached. DSM-IV-TR A. Significantly subaverage intellectual functioning: an IQ of approximately 70 or bel...

INTELLECTUAL DISABILITY LESSON 2 Intellectual Disability ◦a group of disorders that have in common deficits of adaptive and intellectual function and an age of onset before maturity is reached. DSM-IV-TR A. Significantly subaverage intellectual functioning: an IQ of approximately 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 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/interpersonal skills, use of community resources, self-direction, functional academic skills, work, leisure, health, and safety. C. The onset is before age 18 years. DSM-IV-TR LEVLS OF MENTAL RETARDATION ◦ Mild MR – 55-70 IQ – Adaptive limitations in 2 or more domains ◦ Moderate MR – 35-54 IQ – Adaptive limitations in 2 or more domains ◦ Severe MR – 20-34 IQ – Adaptive limitations in all domains ◦ Profound MR – Below 20 IQ – Adaptive limitations in all domains The DSM-5 diagnosis of ID requires the satisfaction of three criteria: 1. Deficits in intellectual functioning—“reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience”—confirmed by clinical evaluation and individualized standard IQ testing (APA, 2013, p. 33); 2. Deficits in adaptive functioning that significantly hamper conforming to developmental and sociocultural standards for the individual's independence and ability to meet their social responsibility; and 3. The onset of these deficits during childhood. GENERAL INTELLECTUAL FUNCTIONING ◦ It is defined as the results obtained by the administration of a standardized general intelligence test developed for the purposed and adapted to the condition of the region/country. Classification ◦ Conceptual skills - communication, functional academics, self-direction, money concepts ◦ Social Skills - interpersonal skills, self-esteem, naiveté/gullibility, self-governance (obeys rules) ◦ Practical Skills - self-care, domestic skills, work, health & safety Adaptive Behavior ◦ IT IS DEFIENED AS THE DEGREE WITH WHICH THE INDIVIDUAL MEETS THE STANDARDS OF PERSONAL INDEPENDENCE & SOCIAL RESPONSIBILITY EXPECTED OF HIS AGE & CULTURAL GROUP. ◦ THE EXPECTATION OF ADAPTIVE BEHAVIOUR VARY WITH THE CHRONOLOGICAL AGE. Prevalence ◦ Intellectual disability has an overall general population prevalence of approximately 1%, and prevalence rates vary by age ◦ Prevalence for severe intellectual disability is approximately 6 per 1,000 ◦ Males are more likely than females to be diagnosed with both mild MR (average male: female ratio 1.6:1) and severe MR (average male: female ratio 1.2:1) Etiology Prenatal causes: ◦ Maternal infections of rubella, toxoplasma, etc ◦ Prenatal use of toxic substance like ethanol, carbon monoxide exposure ◦ RH Incompatibility ◦ Genetic Disorders ◦ Chromosomal aberrations: ex: Down’s syndrome ◦ Disorders with autosomal dominance: ex: Tuberous sclerosis ◦ Disorders with autosomal recessive inheritance: ex: Phenylketonuria ◦ X-linked disorders: ex: fragile X ◦ Prenatal Injury Etiology Perinatal Causes ◦ Infections, ex: Herpes simplex virus 2 ◦ Mechanical injury during birth ◦ Perinatal Hypoxia ◦ Other perinatal causes like Retinopathy of prematurity neonatal hyperbilurubinemia Etiology Postnatal causes ◦ Infections: bacterial and viral infections of the brain during childhood like meningitis or encephalitis ◦ Toxic substance – exposure to lead ◦ Other causes: hypothyroidism, dietary deficiencies, brain tumors GENETIC DISORDERS Down Syndrome ◦ The single most important prenatal genetic disorder responsible for intellectual disability is down syndrome. There are three widely accepted causes that explains the genetic basis of down syndrome. ◦ Complete trisomy 21 ◦ Mosaic trisomy 21 ◦ Translocation trisomy 21 CLINICAL FEATURES ◦ UPWARD-SLANTED PALPEBRAL FISSURES ◦ A LOW NASAL BRIDGE WITH EPICANTHAL FOLD ◦ SMALL MOUTH AND EARS ◦ SINGLE PALMER CREASE (SIMIAN CREASE) ◦ A FLAT NASAL BRIDGE ◦ SHORT AND WIDE PALMS ◦ CHARACTERISTIC DERMATOGLYPHIC PATTERN. FRAGILE X SYNDROME ◦ FRAGILE X SYNDROME IS THE SECOND MOST COMMON SINGLE CAUSE OF ID. ◦ THE SYNDROME RESULTS FROM A MUTATION ON THE X CHROMOSOME AT WHAT IS KNOWN AS THE FRAGILE SITE (XQ27.3). ◦ THE TYPICAL PHENOTYPE INCLUDES A LARGE, LONG HEAD AND EARS, SHORT STATURE, HYPER EXTENSIBLE JOINTS, AND POST PUBERTAL MACROORCHIDISM. ◦ THE MENTAL RETARDATION RANGES FROM MILD TO SEVERE. PRADER-WILLI SYNDROME ◦ PRADER-WILLI SYNDROME IS POSTULATED TO RESULT FROM A SMALL DELETION INVOLVING CHROMOSOME 15, USUALLY OCCURRING SPORADICALLY. ◦ ITS PREVALENCE IS LESS THAN 1 OF 10,000. ◦ PERSONS WITH THE SYNDROME EXHIBIT COMPULSIVE EATING BEHAVIOR AND OFTEN OBESITY, MENTAL RETARDATION, HYPOGONADISM, SMALL STATURE, HYPOTONIA, AND SMALL HANDS AND FEET. CRI-DU-CHAT SYNDROME ◦ CHILDREN WITH CAT'S CRY SYNDROME LACK PART OF CHROMOSOME 5. ◦ SEVERE RETARDATION ◦ MICROCEPHALY ◦ LOW-SET EARS ◦ OBLIQUE PALPEBRAL FISSURES ◦ HYPERTELORISM ◦ MICROGNATHIA. ◦ THE CHARACTERISTIC CAT-LIKE CRY CAUSED BY LARYNGEAL ABNORMALITIES THAT GAVE THE SYNDROME ITS NAME GRADUALLY CHANGES AND DISAPPEARS WITH INCREASING AGE. KLINEFELTER’S SYNDROME ◦ is a chromosomal condition in boys and men that can affect physical and intellectual development. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. ◦ In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys are never diagnosed. Turner Syndrome ◦ is a chromosomal condition that affects development in females. ◦ The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. ◦ The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile).  William’s Syndrome ◦ Williams syndrome is a developmental disorder that affects many parts of the body. ◦ This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. ◦ People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization).  Cornelia de Lange syndrome ◦ is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. ◦ Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers Rett’s Disorder ◦ is a brain disorder that occurs almost exclusively in girls. ◦ The most common form of the condition is known as classic Rett syndrome. ◦ After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. INBORN ERRORS OF METABOLISM Phenylketonuria Phenylketonuria ◦ Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. ◦ Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems. ◦ Without treatment, these children develop permanent intellectual disability ◦ After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Clinical Features ◦ SEVERELY RETARDED, BUT SOME ARE REPORTED TO HAVE BORDERLINE OR NORMAL INTELLIGENCE ◦ ECZEMA ◦ CONVULSIONS OCCUR IN ABOUT A THIRD OF ALL PATIENTS. ◦ THEY FREQUENTLY HAVE TEMPER TANTRUMS ◦ OFTEN DISPLAY BIZARRE MOVEMENTS OF THEIR BODIES AND UPPER EXTREMITIES, INCLUDING TWISTING HAND MANNERISMS ◦ A MUSTY ODOR IN THE CHILD'S BREATH, SKIN OR URINE, CAUSED BY TOO MUCH PHENYLALANINE IN THE BODY ◦ FAIR SKIN AND BLUE EYES, BECAUSE PHENYLALANINE CANNOT TRANSFORM INTO MELANIN — THE PIGMENT RESPONSIBLE FOR HAIR AND SKIN TONE ◦ ABNORMALLY SMALL HEAD (MICROCEPHALY) MAPLE SYRUP URINE DISEASE ◦ Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. ◦ The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.  MATERNAL INFECTIONS Rubella (German Measles) THE MAJOR CAUSE OF MENTAL RETARDATION CAUSED BY MATERNAL INFECTION. ◦ THE CHILDREN OF AFFECTED MOTHERS MAY SHOW SEVERAL ABNORMALITIES, INCLUDING CONGENITAL HEART DISEASE, MENTAL RETARDATION, CATARACTS, DEAFNESS, MICROCEPHALY, AND MICROPHTHALMIA. ◦ THE INCIDENCE RISES TO ALMOST 50 PERCENT WHEN THE INFECTION OCCURS IN THE FIRST MONTH OF PREGNANCY. CYTOMEGALIC INCLUSION DISEASE ◦ SOME CHILDREN ARE STILLBORN, AND OTHERS HAVE JAUNDICE, MICROCEPHALY, HEPATOSPLENOMEGALY, AND RADIOGRAPHIC FINDINGS OF INTRACEREBRAL CALCIFICATION. ◦ THE DIAGNOSIS IS CONFIRMED BY POSITIVE FINDINGS OF THE VIRUS IN THROAT AND URINE CULTURES SYPHILIS ◦ SYPHILIS IN PREGNANT WOMEN WAS ONCE THE MAIN CAUSE OF VARIOUS NEUROPATHOLOGICAL CHANGES IN THEIR OFFSPRING, INCLUDING MENTAL RETARDATION. ◦ TODAY, THE INCIDENCE OF SYPHILITIC COMPLICATIONS OF PREGNANCY FLUCTUATES WITH THE INCIDENCE OF SYPHILIS IN THE GENERAL POPULATION TOXOPLASMOSIS ◦ IT CAUSES MILD OR SEVERE MENTAL RETARDATION AND, IN SEVERE CASES, HYDROCEPHALUS, SEIZURES, MICROCEPHALY, AND CHORIORETINITIS. HERPES SIMPLEX ◦ THE HERPES SIMPLEX VIRUS CAN BE TRANSMITTED TRANSPLACENTALLY, IT IS ONE OF THE MOST COMMON MODE OF INFECTION DURING BIRTH. ◦ MICROCEPHALY, MENTAL RETARDATION, INTRACRANIAL CALCIFICATION, AND OCULAR ABNORMALITIES MAY RESULT. ACQUIRED IMMUNE DEFICIENCY SYNDROME (AIDS) ◦ MANY FETUSES OF MOTHERS WITH AIDS NEVER COME TO TERM BECAUSE OF STILLBIRTH OR SPONTANEOUS ABORTION. ◦ OF INFANTS BORN INFECTED WITH THE HUMAN IMMUNODEFICIENCY VIRUS (HIV), UP TO HALF HAVE PROGRESSIVE ENCEPHALOPATHY, MENTAL RETARDATION, AND SEIZURES WITHIN THE FIRST YEAR OF LIFE. PRENATAL USE OF TOXIC SUBSTANCES ◦ Fetal Alcohol Syndrome ◦ A combination of irreversible birth defects resulting from alcohol use by mother and father ◦ Growth retardation in weight, height and/or head circumference ◦ Altered form and facial defects ◦ mental retardation ◦ Hydrocephalus ◦ A syndrome, or sign, resulting from disturbances in the dynamics of cerebrospinal fluid (CSF), which may be caused by several diseases. Complications of Pregnancy ◦ TOXEMIA OF PREGNANCY AND UNCONTROLLED MATERNAL DIABETES RESULT IN MENTAL RETARDATION. ◦ MATERNAL MALNUTRITION DURING PREGNANCY OFTEN RESULTS IN PREMATURITY AND OTHER OBSTETRICAL COMPLICATIONS. ◦ VAGINAL HEMORRHAGE, PLACENTA PREVIA, PREMATURE SEPARATION OF THE PLACENTA, AND PROLAPSE OF THE CORD CAN DAMAGE THE FETAL BRAIN BY CAUSING ANOXIA Perinatal Causes ◦ Premature infants and infants with low birth weight ◦ Infants who sustain intracranial hemorrhages Postnatal Causes ◦ Environmental and Psychosocial Problems ◦ Nutritional problems ◦ Adverse living conditions ◦ Inadequate health care ◦ Lack of early cognitive stimulation ◦ Child abuse and neglect ◦ Traumatic brain injury ◦ Viral infections like meningitis or encephalitis ◦ Heavy metal poisoning esp, lead poisoning  Common presentations of intellectual disability by age Newborn ▪ Dysmorphic syndromes, (multiple congenital anomalies), microcephaly ▪ Major organ system dysfunction (e.g., feeding and breathing) Early Infancy ▪ Failure to interact with the environment ▪ Concerns about vision and hearing impairments Later Infancy ▪ Gross motor delay Toddlers ▪ Language delays or difficulties Preschool ▪ Language difficulties or delays ▪ Behavior difficulties, including play ▪ Delays in fine motor skills: cutting, coloring, drawing Associated Features Supporting Diagnosis: ◦ Difficulties with social judgment; assessment of risk; selfmanagement of behavior, emotions, or interpersonal relationships; or motivation in school or work environments. ◦ Lack of communication skills ◦ Disruptive and aggressive behaviors. ◦ Gullibility and lack of awareness of risk may result in exploitation by others and possible victimization, fraud, unintentional criminal involvement, false confessions, and risk for physical and sexual abuse. ◦ Individuals with a diagnosis of intellectual disability with co-occurring mental disorders are at risk for suicide. Thus, screening for suicidal thoughts is essential in the assessment process. ◦ Because of a lack of awareness of risk and danger, accidental injury rates may be increased. A comprehensive evaluation includes ◦ An assessment of intellectual capacity and adaptive functioning. ◦ Identification of genetic and non-genetic etiologies. ◦ Evaluation for associated medical conditions (e.g., cerebral palsy, seizure disorder). ◦ Evaluation for co-occurring mental, emotional, and behavioral disorders Cognitive Ability Assessment: ◦ WISC Series (WISC IV; WAIS II; WPPSI, etc.) ◦ Stanford-Binet V Woodcock-Johnson Test of Cognitive Abilities ◦ Bayley Scales of Infant Development ◦ Kaufman Assessment Battery for Children Adaptive Behavior Assessment ◦ Vineland II Adaptive Behavior Scales (Sparrow, Cicchetti, & Balla, 2005) ◦ Scales of Independent Behavior– Revised (SIB-R) (Brunininks, Woodcock, Weatherman, & Hill, 1996) ◦ Adaptive Behavior Assessment System 2nd Edition (ABAS – II) (Harrison & Oakland, 2003) Components of Evaluation may include: ◦ Basic pre- and perinatal medical history ◦ Three-generational family pedigree ◦ Physical examination  Genetic evaluation (e.g., karyotype or chromosomal microarray analysis and testing for specific genetic syndromes) ◦ Metabolic screening  Neuroimaging assessment Primary Prevention: ◦ Immunization Programs ◦ Prevention of trauma and injuries ◦ Genetic Counselling ◦ Health education ◦ Effective antenatal/natal care ◦ Prevention of poisoning and drug abuse Preventable intellectual disability ◦ phenylketonuria………newborn screening, dietary treatment ◦ Galactosemia …………newborn screening, dietary treatment ◦ Congenital hypothyroidism…….. newborn screening and thyroid hormone replacement therapy ◦ use of anti-Rh immune globulin to prevent Rh disease and severe jaundice in newborn infants ◦ Hib diseases by using the Hib vaccine ◦ Measles/encephalitis ………… measles vaccine ◦ German measles during pregnancy………. Rubella vaccine ◦ Fetal alcohol syndrome Management: ◦ Early intervention programs ◦ Special education services (individualized educational programs) ◦ Family support services (Counseling, Training, Home visitation, Social services) ◦ Pharmacotherapy ◦ Health services, including hearing and vision ◦ Nutrition counseling ◦ Assistive technology (which may include tape-recorded texts, reading scanners, or voice-activated computer programs) ◦ Medical diagnostic services ◦ Transportation and other assistive technology Primary Care ◦ For children with an intellectual disability, primary care has a number of important components: ◦ 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: e.g., examination of the teeth in children who exhibit bruxism, thyroid function in children with Down syndrome, cardiac function in Williams syndrome QUESTIONS? Thank you for listening! ☺ Prepared by: Ma. April F. Arcilla