Biomaterial Database

A family with fragile-X syndrome. 1984

J Kerbeshian, and L Burd, and J Martsolf

A family with fragile-X syndrome is reported. One sibling has atypical pervasive developmental disorder and moderate mental retardation. A second sibling has Tourette's syndrome, moderate mental retardation, seizure disorder, and autism. A third sibling has attention deficit disorder, moderate mental retardation, and developmental language disorder, expressive type. The authors believe that this family represents a classic example of the differential outcome of interactions of common biogenetic and environmental influences. We propose that in this family the multipotential outcome is at least influenced by if not caused by a common genetic defect.

UI	MeSH Term	Description	Entries
D007806	Language Disorders	Conditions characterized by deficiencies of comprehension or expression of written and spoken forms of language. These include acquired and developmental disorders.	Acquired Language Disorders,Language Disorders, Acquired,Acquired Language Disorder,Language Disorder,Language Disorder, Acquired
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002659	Child Development Disorders, Pervasive	Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.	Pervasive Child Development Disorders,Pervasive Development Disorders
D005600	Fragile X Syndrome	A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)	FRAXA Syndrome,FRAXE Syndrome,Martin-Bell Syndrome,Fra(X) Syndrome,Fragile X Mental Retardation Syndrome,Fragile X-F Mental Retardation Syndrome,Mar (X) Syndrome,Marker X Syndrome,Mental Retardation, X-Linked, Associated With Fragile Site Fraxe,Mental Retardation, X-Linked, Associated With Marxq28,X-Linked Mental Retardation and Macroorchidism,FRAXA Syndromes,FRAXE Syndromes,Fragile X Syndromes,Marker X Syndromes,Martin Bell Syndrome,Syndrome, FRAXA,Syndrome, FRAXE,Syndrome, Fragile X,Syndrome, Marker X,Syndrome, Martin-Bell,Syndromes, FRAXA,Syndromes, FRAXE,Syndromes, Fragile X,Syndromes, Marker X,X Linked Mental Retardation and Macroorchidism
D005879	Tourette Syndrome	A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)	Gilles de la Tourette Disorder,Gilles de la Tourette's Disease,Tic Disorder, Combined Vocal and Multiple Motor,Chronic Motor and Vocal Tic Disorder,Combined Multiple Motor and Vocal Tic Disorder,Combined Vocal and Multiple Motor Tic Disorder,Gilles De La Tourette's Syndrome,Gilles de la Tourette Syndrome,Multiple Motor and Vocal Tic Disorder, Combined,Tourette Disease,Tourette Disorder,Tourette's Disease,Tourette's Disorder,Tourette's Syndrome,Syndrome, Tourette,Tourettes Disease,Tourettes Disorder,Tourettes Syndrome
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001289	Attention Deficit Disorder with Hyperactivity	A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V)	ADHD,Attention Deficit Disorder,Attention Deficit Hyperactivity Disorder,Brain Dysfunction, Minimal,Hyperkinetic Syndrome,Minimal Brain Dysfunction,ADDH,Attention Deficit Disorders with Hyperactivity,Attention Deficit Hyperactivity Disorders,Attention Deficit-Hyperactivity Disorder,Attention Deficit Disorders,Attention Deficit-Hyperactivity Disorders,Deficit Disorder, Attention,Deficit Disorders, Attention,Deficit-Hyperactivity Disorder, Attention,Deficit-Hyperactivity Disorders, Attention,Disorder, Attention Deficit,Disorder, Attention Deficit-Hyperactivity,Disorders, Attention Deficit,Disorders, Attention Deficit-Hyperactivity,Dysfunction, Minimal Brain,Syndromes, Hyperkinetic
D001321	Autistic Disorder	A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)	Autism, Infantile,Kanner's Syndrome,Autism,Autism, Early Infantile,Disorder, Autistic,Disorders, Autistic,Early Infantile Autism,Infantile Autism,Infantile Autism, Early,Kanner Syndrome,Kanners Syndrome