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

This is a personal account of the play behaviors of an individual who has autism as remembered by himself and his mother. Jean-Paul Bovee explains the activities that were enjoyable for him and which were his play, although they were unusual and may not fit the typical definition of play. His mother, Dr Julie A. Donnelly, tells of her attempts to involve Jean-Paul in typical play and how important play is as a bridge to social skills and involvement with peers. Jean-Paul concludes that his play is a part of the unique individual he has become.
Autism 2003 Dec
PMID:Reflections on play: recollections from a mother and her son with Asperger syndrome. 1467 84

In recent years, VIP/PACAP/secretin family has special interest. Family members are vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), secretin, glucagon, glucagon like peptide-1 (GLP(1)), GLP(2), gastric inhibitory peptide (GIP), growth hormone releasing hormone (GHRH or GRF), and peptide histidine methionine (PHM). Most of the family members present both in central nervous system (CNS) and in various peripheral tissues. The family members that are released into blood from periphery, especially gut, circulate the brain and they can cross the blood brain barrier. On the other hand, some of the members of this family that present in the brain, can cross from brain to blood and reach the peripheral targets. VIP, secretin, GLP(1), and PACAP 27 are transported into the brain by transmembrane diffusion, a non-saturable mechanism. However, uptake of PACAP 38 into the brain is saturable mechanism. While there is no report for the passage of GIP, GLP(2), and PHM, there is only one report that shows, glucagon and GHRH can cross the BBB. The passage of VIP/PACAP/secretin family members opens up new horizon for understanding of CNS effects of peripherally administrated peptides. There is much hope that those peptides may prove to be useful in the treatment of serious neurological diseases such as Alzheimer's disease, amyotropic lateral sclerosis, Parkinson's disease, AIDS related neuropathy, diabetic neuropathy, autism, stroke and nerve injury. Their benefits in various pathophysiologic conditions undoubtly motivate the development of a novel drug design for future therapeutics.
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PMID:Passage of VIP/PACAP/secretin family across the blood-brain barrier: therapeutic effects. 1513 84

We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often associated with autism, including mild mental retardation, small head circumference, hyperactivity, poor fine motor skills, slightly dysmorphic facial features and a heightened interest in olfactory stimulation. His brother, who did not have chromosome 1 UPD, was also autistic. The mother, but not the father, had a history of psychiatric illness and a number of personality and social traits similar to the core features of autism. The discovery of the cytogenetic abnormality was made during the course of a genome-wide linkage screen, wherein genotypes at 6 out of 17 chromosome 1 markers were non-Mendelian and all transmissions were consistent with UPD. Further genotyping (a total of 54 markers) revealed alternating regions of heterodisomy and isodisomy. Whereas chromosome 1 UPD has not been shown to cause disease by effects on imprinting, numerous reports exist of the abnormality unmasking recessive disease-causing mutations. In agreement with this, one of the regions of isodisomy overlaps an emerging chromosome 1 region of interest in autism located at 150-160 Mb.
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PMID:A case of autism and uniparental disomy of chromosome 1. 1588

HOXA1 gene is part of a cluster of homeotic selector genes that regulates the anteroposterior patterning of mammals during embryonic development. HOXA1 encodes two alternatively spliced mRNAs with two isoforms, A and B, the former contains the homeodomain and expressed in early embryonic development. HOXA1 contains a string of 10 histidine repeats. However, individuals heterozygous for 7, 9, 11, and 12 histidine repeat variants were present among the Japanese population, notably in some autism cases. To determine the biological implications of the different polyhistidine repeat lengths, we expressed these variants in COS-7 and a human neuroblastoma cell line (SK-N-SH). Expression of expanded variants of HOXA1 isoform A, containing 11 and 12 polyhistidine, resulted in early and great degree of protein aggregation in the nucleus. This aggregation resulted in accelerated cell death in cells expressing 11 and 12 expanded variants compared to those transfected with 7 and 10 polyhistidine variants. Furthermore, we showed that these aggregates were ubiquitinated and were inhibited by a histidine-modifying compound, DEPC. These data suggest that HOXA1 protein with polyhistidine tract expansions misfold, aggregate, and have a toxic effect on cell.
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PMID:Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death. 1616 61

This study explored the use of focused stimulation as an intervention technique for a three-year-old boy diagnosed with autism spectrum disorder (ASD). His parents were trained to use focused stimulation to facilitate comprehension of what is x doing question forms. Responses to question probes were collected at both pre- and post-treatment intervals. At the beginning of the study, the child did not respond correctly to any of the target questions. Following intervention, the child made significant gains towards the target goal, but little change towards a control goal used for comparison. These findings provide preliminary support for the usefulness of focused stimulation as an intervention strategy for at least some children with ASD.
J Autism Dev Disord 2006 Aug
PMID:Focused stimulation for a child with autism spectrum disorder: a treatment study. 1683 31

We report on a young male with moderate mental retardation, dysmorphic features, and language delay who is deleted for 7q31.1-7q31.31. His full karyotype is 46,XY,der(7)del(7)(q31.1q31.31)ins(10;7)(q24.3;q31.1q31.31)mat. This child had language impairment, including developmental verbal dyspraxia, but did not meet criteria for autism according to standardized ADOS testing. Our patient's deletion, which is the smallest reported deletion including FOXP2, adds to the body of evidence that supports the role of FOXP2 in speech and language impairment, but not in autism. A reported association between autism and deletions of WNT2, a gene also deleted in our patient, is likewise not supported by our case. Previously, fine mapping with microsatellites markers within in a large three-generation family, in which half the members had severe specific language impairment, aided the localization of the SPCH1 locus to 7q31 within markers D7S2459 (107.1 Mb) and D7S643 (120.5 Mb). Additionally, chromosome rearrangement of 7q31 and mutational analyses have supported the growing evidence that FOXP2, a gene within the SPCH1 region, is involved with speech and language development. It is unclear however whether the AUTS1 (autistic spectrum 1) locus, highly linked to 7q31, overlaps with the SPCH1 and FOXP2.
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PMID:Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. 1733 Aug 59

Neuroligin 4 (NLGN4) is a member of a cell adhesion protein family that appears to play a role in the maturation and function of neuronal synapses. Mutations in the X-linked NLGN4 gene are a potential cause of autistic spectrum disorders, and mutations have been reported in several patients with autism, Asperger syndrome, and mental retardation. We describe here a family with a wide variation in neuropsychiatric illness associated with a deletion of exons 4, 5, and 6 of NLGN4. The proband is an autistic boy with a motor tic. His brother has Tourette syndrome and attention deficit hyperactivity disorder. Their mother, a carrier, has a learning disorder, anxiety, and depression. This family demonstrates that NLGN4 mutations can be associated with a wide spectrum of neuropsychiatric conditions and that carriers may be affected with milder symptoms.
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PMID:Familial deletion within NLGN4 associated with autism and Tourette syndrome. 1823 Nov 25

An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, and mental and developmental retardation are not rare in association with a dicentric, bisatellited supernumerary marker chromosome 15, the present case is novel for a monocentric, monosatellited supernumerary marker chromosome 15 and the additional feature of hypoplastic corpus callosum. The present case provides support for the hypotheses that additional copies of different segments of proximal 15q are related to autism and to malformations of corpus callosum.
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PMID:Autism and hypoplastic corpus callosum in a case of monocentric marker chromosome 15. 1952 Feb 80

Rumination involves regurgitation of previously ingested food, rechewing the food, and reswallowing it. In the current study, a child with autism displayed chronic rumination, resulting in the decay and subsequent removal of several teeth. After several treatments failed, including thickened liquids and starch satiation, the participant was taught to chew gum. His rumination decreased significantly when gum was made available. Results suggest that access to chewing gum may be an effective treatment for rumination in some individuals.
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PMID:Chewing gum as a treatment for rumination in a child with autism. 1994 28

Congenital rubella syndrome (CRS) consists of a group of abnormalities that develop in children as a result of maternal infection with rubella virus. CRS may lead to new physical symptoms during adolescence or adulthood, referred to as "late manifestations". Psychiatric disorders are often seen among CRS patients, with an incidence of 4.12-7.3% for autism. We report a case of adolescent CRS with autism. A 20-year-old man had received treatment with antipsychotics and antidepressants since the age of 12 years because of unstable moods, violence, and stereotypic behavior. During follow-up, he developed some insidious-onset physical problems, including hyperlipidemia, dyspnea, constipation, torticollis and a tilted trunk. Under careful survey and evaluation, some physical problems were recognized as side effects of psychotropics, which gradually subsided after adjustment of the medications, and some of the problems were considered partially as manifestations of CRS, such as progressive pulmonary artery stenosis-related dyspnea. We managed some of the patient's physical problems and then he received catheterization for pulmonary artery stenosis. His general physical condition improved and some further improvement in psychiatric status was noted thereafter. Because of a high comorbidity rate for patients with autistic disorder, the clinician should be aware of the possibility of CRS if the patient has multiple congenital physical abnormalities with a history of maternal rubella infection. If patients develop physical symptoms in adolescence, awareness of late manifestations of CRS and differentiation from the adverse effects of psychotropic medications are essential. In addition to psychiatric treatment, management of physical problems associated with CRS would be beneficial for the patients' psychiatric condition.
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PMID:Congenital rubella syndrome with autistic disorder. 2017 92


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