Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There is increasing recognition that autism is a syndrome, not a disease entity. But it is not yet clear why some children develop autistic behavior more easily than others. It has been noted that autistic symptoms occur more frequently in children with mental retardation, blindness, congenital rubella, phenylketonuria, etc., and that there are very few cases of classical infantile autism in the general population. Very rarely has autism been associated with Down's syndrome. This is a report of a case of Down's syndrome and infantile autism.
J Autism Dev Disord 1979 Mar
PMID:A case of infantile autism associated with Down's syndrome. 15 85

In the clinical picture of 121 patients from 1 to 14 years among the group of 250 with phenylketonuria (48.4%), besides symptoms of mild mental retardation, there were also signs of autism, shallow emotional reactions and catatonic disturbances. This group was distinguished as a special schizophreno-like variant of phenylketonuria. A study of the age and therapeutical dynamics of the psychotic symptomatology has demonstrated that the schizophreno-like syndrome in phenylketonuria may be transient (63 cases) and more stable (58 cases) and does not depend upon the content of hyperphenilalaninemia, the genetical variant of the disorder and hereditary loading by schizophrenia. It is concluded that the schizophreno-like symptomatology in phenylketonuria develops due to a pleiotropic effect of the phenylketonuric gene.
 ...
PMID:[A schizophrenia-like variant of phenylketonuria]. 121 Sep 31

Sixty families ascertained through a single proband, has helped to better define infantile autism as a heterogeneous group of disorders. Forty four patients showed a characteristic facio- auricular dysplasia. Twenty four of these, showed increased pyruvate and lactate and laboratory findings of metabolic acidosis i.e., anion gap above 18 mEq/L or serum bicarbonate below 21 mEq/L but only nine of these probands demonstrated reduction of plasma bicarbonate below 18 mEq/lt. Plasma amino acids in 17 probands and matched controls showed increased taurine with the rest of amino acids significantly (p less than 0.05) below the control level. Glutamate and aspartate were also significantly elevated (p less than 0.05; Student t-test). Segregation analysis in thirty four of these families which linked through at least one ancestral family name, suggested autosomal recessive inheritance (p = 0.20). Three out of eight probands who received megadoses of pyridoxine (Vitamin B6), subjectively gained in language abilities, affectivity and response to behavior modification therapy. Five autistic patients proved to have clinically defined syndromes: two with the Martin-Bell syndrome, and three girls affected respectively with the Rett syndrome, phenylketonuria and dicarboxylic aciduria.
 ...
PMID:[Clinical heterogeneity of the autistic syndrome: a study of 60 families]. 139 Oct 74

A 3.5-year-old girl with an autistic syndrome was investigated, and classic phenylketonuria (PKU) was identified. The search for PKU was undertaken systematically as part of an essential work-up of children with autism.
 ...
PMID:Phenylketonuria: an underlying etiology of autistic syndrome. A case report. 155 46

Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age. The syndrome has incidence similar to that of phenylketonuria and autism in females. It has been widely recognised only since 1983. After six months of age head growth decelerates associated eventually with severe dementia, and autism, apraxia, stereotypic "hand washing" movements and loss of previously acquired skills occurs. Supportive symptoms may include breathing dysfunction, seizures, EEG abnormalities, and growth retardation. Occurrence indicates sporadic new mutations as a cause. The case histories of two patients diagnosed in New Zealand are described.
 ...
PMID:Rett syndrome: case reports and review. 218 54

A 12-year-old Chinese boy had a diagnosis of infantile autism at infancy that was finally confirmed as classic phenylketonuria at adolescence. This treatable inborn metabolic disease should be investigated in cases of apparent autism, especially where mass neonatal screening of inborn metabolic diseases has not been established.
 ...
PMID:A Chinese classic phenylketonuria manifested as autism. 259 24

During the last 30 years the Frambu Health Centre has evolved from a summer-camp site for children with poliomyelitis to a modern information and treatment Centre for families with disabled members. Since 1976, fortnightly courses have been held for an increasing number of patients with rare, often congenital and/or hereditary disorders (anorectal anomalies, bladder extrophy, congenital heart defects, cystic fibrosis, severe diabetes, hemophilia, hip joint defects, juvenile rheumatoid arthritis, minimal brain dysfunction, muscular dystrophy, phenylketonuria, psychosis/autism, spina bifida, Huntington's chorea, osteogenesis imperfecta, retitinitis pigmentosa, a. o.). This article describes the facilities, operation, financing and staff at Frambu. An outline of the course programme is given. The contents of two research projects carried out at Frambu are described. When families with rare disorders meet for the first time, new perspectives open up. Exchange of experience and feelings, establishing lay organizations, collating and distributing information to professionals and families are some of the important results of the Frambu courses.
 ...
PMID:Frambu Health Centre: promoting family focused care for disabled children. 622 40

Childhood autism may be caused by damage to three phylogenetically distinct regions of the brain, or their major pathways and connections. Injury to the neocortex results in loss of language and cognitive function, while injury to the limbic cortex results in autistic withdrawal and abolition of play behaviour. Injury to the more primitive striatal complex, mammalian counterpart of the brain of reptiles, results in a bizarre and truncated form of stereotyped and ritualistic behaviour. The causes of brain injury in childhood autism could be those common in the perinatal period including cerebral anoxia, haemorrhage, phenylketonuria, neurolipidoses , meningitis, toxoplasmosis, and congenital rubella. All these conditions have previously been shown to be associated with childhood autism.
 ...
PMID:Reptilian behavioural patterns in childhood autism. 672 22

The results of a postal questionnaire distributed to British members of Mensa failed to confirm an association of superior intelligence with torsion dystonia, retinoblastoma, or phenylketonuria, but were consistent with real associations between high IQ and infantile autism, gout, and myopia. Further confirmation of these findings in other populations might well indicate that genes producing these disorders have more or less direct effects on cerebral development and function.
 ...
PMID:Genes for super-intelligence? 733 99

Sixty-five children with pervasive developmental disturbance (autism and atypical childhood psychosis) were screened by standard urinary amino acid detection testing methods. Three of the children showed abnormalities in these screening tests, leading to the diagnosis of phenylketonuria. This was verified by repeated urinary testing and blood phenylalanine determinations. The children with phenylketonuria were treated with low-phenylalanine diets and have shown improvement in functioning and developmental level since treatment. Urinary genetic screening should be a standard test for all children being evaluated for serious developmental disturbances of childhood.
 ...
PMID:Detection of phenylketonuria in autistic and psychotic children. 735 Mar 53


1 2 3 4 Next >>