chromosomal disorders inborn errors of metabolism developmental disorders affecting brain formation...

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Page 1: Chromosomal disorders Inborn errors of metabolism Developmental disorders affecting brain formation Environmental influences
Page 2: Chromosomal disorders Inborn errors of metabolism Developmental disorders affecting brain formation Environmental influences

• Chromosomal disorders

• Inborn errors of metabolism

• Developmental disorders affecting brain formation

• Environmental influences

Page 3: Chromosomal disorders Inborn errors of metabolism Developmental disorders affecting brain formation Environmental influences

• Down syndrome – A condition resulting form abnormality with the 21st pair of chromosomes; characterized by mental retardation and such physical signs as slanted appearing eyes, hypotonia, shortness, and tendency toward obesity

• Trisomy 21 – type of Down syndrome in which the 21st chromosome is a triplet

• Spina Bifida – a congenital midline defect resulting from failure of the bony spinal column to close completely during fetal development

Williams Syndrome – a condition resulting from deletion of material in the 7th pair of chromosomes

Page 4: Chromosomal disorders Inborn errors of metabolism Developmental disorders affecting brain formation Environmental influences

• Fragile X Syndrome – condition in which the bottom of the X chromosome in the 23rd pair of chromosomes is pinched off

• Prader-Willi syndrome – caused by inheriting from one’s father a lack of genetic material on the 15th pair of chromosomes

Page 5: Chromosomal disorders Inborn errors of metabolism Developmental disorders affecting brain formation Environmental influences

• Phenylketonuria (PKU) - metabolic genetic disorder caused by the inability of the body to convert phenylalanine to tyrosine; accumulation of phenylalanine results in abnormal brain development

Page 6: Chromosomal disorders Inborn errors of metabolism Developmental disorders affecting brain formation Environmental influences

• Microcephalus – condition causing development of a small, conical- shaped head; proper development of the brain is

prevented, resulting in mental retardation

• Hydrocephalus – condition characterized by enlargement of the head because of excessive pressure of the cerebrospinal fluid

Page 7: Chromosomal disorders Inborn errors of metabolism Developmental disorders affecting brain formation Environmental influences

• Fetal Alcohol Syndrome (FAS) – Abnormalities associated with the mother’s drinking alcohol during pregnancy; defects range from mild to severe

• Rubella – serious viral disease, which, if it occurs during the first trimester of pregancy, is likely to cause deformity in the fetus

Page 8: Chromosomal disorders Inborn errors of metabolism Developmental disorders affecting brain formation Environmental influences

• Anoxia – deprivation of oxygen; can cause brain injury

• Low birth weight – babies who are born weighing less than 5.5 pounds; usually premature; at risk for behavioral and medical conditions, such as mental retardation

• Syphilis – venereal disease that can cause mental subnormality in a child, especially if it is contracted by the mother-to-be during the latter stages of fetal development

• Herpes Simplex – viral disease that can cause cold sores or fever blisters; if it affects the genitals and is contracted by the mother-to-be in the later stages of fetal development, it can cause metnal subnormallity in the child

Page 9: Chromosomal disorders Inborn errors of metabolism Developmental disorders affecting brain formation Environmental influences

• Traumatic Brain Injury – injury to the brain resulting in total or partial disability or psychosocial maladjustment that effects educational performance

• Meningitis – bacterial or viral infection of the linings of the brain or spinal cord

• Encephalitis – inflammation of the brain; can affect the child’s mental development adversely