Asesoramiento genético: Developmental Delay and Mental Retardation

· Developmental Delay and Mental Retardation Contents 1 Etiología 2 Clinical Features 3 Management options 4 Recurrence Risks 5 Psychosocial Issues 6 Referencias 7 Notes Etiology Cause unknown in about 50% of cases Often multifactorial with genetic and environmental components Low birth weight, prematurity, and perinatal complications may be associated - not known if they cause mental retardation or if factor causing these problems also caused MR Approximately 2000 known genetic causes Chromosomal abnormalities Metabolic or endocrine disorders Hereditary degenerative disorders Hormonal deficiency Hereditary syndromes or malformations Acquired causes Prenatal: infección, irradiation, or exposure to toxins Perinatal: prematurity, anoxia, cerebral damage, or infection Postnatal: brain injuries, anoxia, poisons, hormonal deficiencies, metabolic dysfunction, postimmunization encephalopathy, sociocultural, kernicterus, epilepsy In United States, 1-3% of people meet cognitive and functional criteria Clinical Features Not a medical or mental disorder Affects developmental and cognitive abilities Substantial limitations in functioning IQ scores below 70 Mild MR: IQ range 50-55 Para 70 Moderate MR: IQ range 35-40 Para 50-55 Severe MR: 20-25 Para 35-40 Profound MR: Below 20-25 Majority of individuals with mental retardation have IQ scores of 55-69 Able to live independently or with support in group homes Less than 10% of all people with mental retardation have severe to profound impairments May have limited ability to develop some adaptive skills Communication Home living Work Self-care Social/interpersonal skills Self-direction Functional academic skills Leisure Health and safety Use of community resources Can affect abilities in key developmental areas Language development Visual and auditory perception and discrimination Abstract problem solving Onset must occur before age 18 Management options No treatment or cure Early intervention services Provided by the county in Ohio to children between birth and age 3 Studies show the earliest experiences in learning sets the pattern for later information processing Begins with comprehensive developmental assessment May be performed here by CCDD or by private service Assessment used to develop intervention strategy After age 3, school system provides special services Develop an Individualized Education Plan (IEP) Early education focuses on cognitive development and special services such as speech therapy Later education may focus on developing life skills Can attend school until age 21 Adult services Handled in Ohio by the Board of MRDD Focuses on job training, vocational education Community or group homes are available for semi-independent living Recurrence Risks Can calculate a much more accurate risk if etiology is known Other factors to consider: Possibility of consanguinity Whether one or both parents are affected Developmental disabilities may be exacerbated by environmental factors Unsafe or unstimulating home environment Substandard health care Unadequate schooling or lack of services Empiric risk figures when parents affected with mental retardation of unknown etiology 39.4% if both parents affected 7.8% if only father affected 19.6% if only mother affected (higher due to prevalence of X-linked inheritance for conditions such as Fragile X) Psychosocial Issues Provision of adequate services Burden of taking care of a child/adolescent/adult with mental retardation Impact on siblings and other family members Denial, grief, decepción, or feeling of loss Interruption of career goals, family routines, or plans for the future Financial and insurance issues References Milunsky, Aubry. Prevention of Genetic Disease and Mental Retardation. Filadelfia: W.B. Saunders Company (1975). Notes The information in this outline was last updated in 2001. This material has been imported fom the wikibook "Asesoramiento genético"[ HTTP://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License. Permission is granted to copy, distribuir y/o modificar este documento bajo los términos de la Licencia de Documentación Libre GNU, Versión 1.2 o cualquier versión posterior publicada por la Free Software Foundation; sin secciones invariantes, sin textos de portada, y sin textos de contraportada. Se incluye una copia de la licencia en la sección titulada "Licencia de documentación libre GNU."