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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The ability of a male autistic savant (TR) to play two unfamiliar piano pieces after listening to a tape-recording was tested, closely following the procedures of Sloboda, Hermelin, and O'Connor (1985). Other components of TR's musical ability--pitch recognition, improvisation, and ability to provide harmonic accompaniment--were also examined. TR's musical precocity was examined in relation to his general level of intellectual functioning as indexed by a battery of standardized psychological tests of intelligence, memory, reading, visual organization, and creativity. His parents and two male siblings also completed tests of intelligence. Results from psychometric testing indicated that TR has idiosyncratic levels of cognitive functioning with difficulties in verbal reasoning but high levels of concentration and memory. His speed of information processing, as indicated by Inspection Time, and was better than average. TR demonstrated perfect pitch recognition and other family members also demonstrated excellent relative pitch. TR's ability to recall and perform structured music within both the diatonic and whole-tone systems was exceptional but dependent upon his familiarity with musical structure and was therefore organized and rule-driven. Furthermore, TR demonstrated competence in improvisation and composition, albeit restricted by his adherence to structural representations of familiar musical rules.
J Autism Dev Disord 1995 Jun
PMID:The abilities of a musical savant and his family. 755 90

We had a case of psychiatric evidence who was homeless and exhibited severe abulia and autism on detention for assault and battery. It was thought that his past history of chronic methamphetamine abuse and his familial history played some part in his showing such symptoms. His mother was alcohol dependent. He was an ACOA (adult child of alcoholics), which might have led to his chronic abuse of methamphetamine. On the other hand, it is well-known fact that the amotivational syndrome induced by marijuana abuse is typified by a diminution of ambition, productivity, and motivation. However, it has been contended that amotivational syndrome is induced not only by marijuana but also by amphetamine and its analogs, cocaine and volatile solvents. Since we positively support this view, we diagnosed the case as amotivational syndrome after long-term methamphetamine abuse. This was also a rare criminal case of amotivational state without hallucinations and delusions after methamphetamine abuse. We suggested that the crime committed in this case was closely related to crime induced by economic problems in residual states of schizophrenic offenders. This could be a case of both ACOA and methamphetamine dependence. There were unresolved alcohol- and drug-related problems in this case. Therefore, careful early intervention in a crisis, cooperation with the authorities and the institutions concerned, and comprehensive rehabilitation should be employed to resolve such alcohol- and drug-related problems.
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PMID:[A case of amotivational syndrome as a residual symptom after methamphetamine abuse]. 894 Aug 5

The relationship between preferred objects associated with stereotypy, stereotypic behavior, and accuracy of responding during a counting task by a child with autism was analyzed. Object preference was determined by presenting the child with different sets of objects and asking him to choose one. His choices were then rank ordered into three groups: low, medium, and high preference objects. Counting performance within each of the three object groups was then analyzed in a multi-element design, alternating preference groups. Teaching with high-preference objects occasioned more stereotypic behavior and less accurate counting than teaching with medium- and low-preference objects. Thus, there exists the possibility that teaching may be less successful with certain teaching materials, especially if those materials evoke high rates of incompatible behaviors.
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PMID:The effect of object preferences on task performance and stereotypy in a child with autism. 917 81

The paper describes a patient with Asperger disorder, Neurogenic Diabetes Insipidus (NDI) and Primary Empty Sella (ES). His response to vasopressin treatment suggested a concomitant presence of primary polydipsia. This is the first reported case of an autistic spectrum disorder associated with NDI or ES. The implications of the observed co-occurrence of these relatively rare disorders are discussed in relation to diagnosis and pathogenesis.
J Autism Dev Disord 1998 Jun
PMID:Diabetes insipidus and polydipsia in a patient with Asperger's disorder and an empty sella: a case report. 965 35

We report a family with a heterogeneous group of neurologic disorders associated with the mitochondrial DNA G8363A transfer ribonucleic acid (RNA)Lys mutation. The phenotype of one child in the family was consistent with autism. During his second year of life, he lost previously acquired language skills and developed marked hyperactivity with toe-walking, abnormal reciprocal social interaction, stereotyped mannerisms, restricted interests, self-injurious behavior, and seizures. Brain magnetic resonance imaging (MRI) and repeated serum lactate studies were normal. His older sister developed signs of Leigh syndrome with progressive ataxia, myoclonus, seizures, and cognitive regression. Her laboratory studies revealed increased MRI T2-weighted signal in the putamen and posterior medulla, elevated lactate in serum and cerebrospinal fluid, and absence of cytochrome c oxidase staining in muscle histochemistry. Molecular analysis in her revealed the G8363A mutation of the mitochondrial transfer RNA(Lys) gene in blood (82% mutant mitochondrial DNA) and muscle (86%). The proportions of mutant mitochondrial DNA from her brother with autism were lower (blood 60%, muscle 61%). It is likely that the origin of his autism phenotype is the pathogenic G8363A mitochondrial DNA mutation. This observation suggests that certain mitochondrial point mutations could be the basis for autism in some individuals.
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PMID:Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. 1086 77

This study reports on melatonin treatment in autism. A 14-year-old autistic male with severe mental retardation was given melatonin at a dose of 6 mg at 9:00 pm (C1) or 11:00 pm (C2). His parents kept a sleep diary. In C1, he often experienced early morning waking and fragmented night sleep but in C2, night sleep was prolonged and sleep-wake rhythm was improved. Suitable medication time, therefore, improved the sleep-wake rhythm.
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PMID:Effect of melatonin on sleep-wake rhythm: the sleep diary of an autistic male. 1118 24

Zinc has several crucial functions in brain development and maintenance: it binds to p53, preventing it from binding to supercoiled DNA and ensuring that p53 cause the expression of several paramount genes, such as the one that encodes for the type I receptors to pituitary adenine cylase-activator peptide (PACAP), which directs embryonic development of the brain cortex, adrenal glands, etc.; it is required for the production of CuZnSOD and Zn-thionein, which are essential to prevent oxidative damage; it is required for many proteins, some of them with Zn fingers, many of them essential enzymes for growth and homeostasis. For example, the synthesis of serotonin involves Zn enzymes and since serotonin is necessary for melatonin synthesis, a Zn deficiency may result in low levels of both hormones. Unfortunately, Zn levels tend to be low when there is excess Cu and Cd. Moreover, high estrogen levels tend to cause increased absorption of Cu and Cd, and smoking and eating food contaminated with Cd result in high levels of the latter. Furthermore, ethanol ingestion increases the elimination of Zn and Mg (which acts as a cofactor for CuZnSOD). Increased Cu levels may also be found in people with Wilson's disease, which is a rather rare disease. However, the heterozygote form (only one faulty copy of the chromosome) is not so rare. Therefore, the developing fetus of a pregnant women who is low in Zn and high in Cu may experience major difficulties in the early development of the brain, which may later manifest themselves as schizophrenia, autism or epilepsy. Similarly, a person who gradually accumulates Cu, will tend to experience a gradual depletion of Zn, with a corresponding increase in oxidative damage, eventually leading to Parkinson's disease. Also discussed are the crucial roles of histidine, histamine, vitamin D, essential fatty acids, vitamin E, peroxynitrate, etc. in the possible oxidative damage involved in these mental diseases.
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PMID:Micronutrient accumulation and depletion in schizophrenia, epilepsy, autism and Parkinson's disease? 1138 83

This study reports on the seasonal changes in sleep problems and behavioral problems in a pubescent case with autism. His care diary, kept for 1 year, showed seasonal changes of sleep and behavioral problems, and that his behavioral problems preceded his sleep problems.
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PMID:Seasonal changes in sleep and behavioral problems in a pubescent case with autism. 1142 49

A recent study by Ingram et al. [2000b: Teratology 62:393-405] suggests a (His)73(Arg) polymorphism (A:G) in HOXA1 contributes substantially to a liability for autism. Using 68 individuals diagnosed with Autism Spectrum Disorders, they found a significant dearth of G homozygotes and biased transmission of G alleles from parents to affected offspring, especially from mothers. Because the connection between HOXA1 and liability to autism is compelling, we attempted to replicate their finding using a larger, independent sample from the Collaborative Programs of Excellence in Autism (CPEA) network. In our data, genotype frequencies conform to Hardy-Weinberg equilibrium; allele transmissions meet Mendelian expectations; and there is no obvious sex-biased allele transmission. Based on our sample size, calculations suggest that we would have at least 95% power to detect linkage and association even if the A:G polymorphism were to account for only 1% of the heritability of autism. Therefore, although we cannot exclude the possibility that the samples in the two studies are intrinsically different, our data from our sample argue against a major role for HOXA1 (His)73(Arg) in liability to autism.
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PMID:No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network. 1221 Feb 85

We report the case of a child with partial biotinidase deficiency and autistic developmental disorder. We arrived at the diagnosis of biotinidase deficiency when the child was almost 4 years of age. Consequently, he began cofactor biotin treatment (10 mg daily) which did not resolve his autistic behavior. His younger brother was affected by partial biotinidase deficiency diagnosed at birth through our neonatal screening program. He was precociously treated with cofactor biotin therapy (10 mg daily) and did not show any behavioral abnormality or developmental delay. Since the brain is quite vulnerable to biotin deficiency, delayed biotin therapy could result in neurological damage. Our patient is the first case of partial biotinidase deficiency associated with autism. We hypothesize that the low biotinidase activity could have caused biotin deficiency in his brain and cerebrospinal fluids and consequently serious neurological problems, such as stereotyped and autistic behaviors, which were irreversible in spite of biotin supplementation.
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PMID:A case of partial biotinidase deficiency associated with autism. 1368 Apr 8


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