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At least 19 recordsLinked to original sources
PubMed2000

Peek-a-boo fragile site at 16d associated with Tourette syndrome, bipolar disorder, autistic disorder, and mental retardation.

Five patients with a fragile site at 16q22-23 and neuropsychiatric disorders are reported. Three of five had Tourette disorder, three had mental retardation, two had bipolar disorder, and one had autistic disorder. During our attempts to study the fragile sites in more detail we were unable to reproduce the fragile sites found several years earlier. The potential relationship between the fragile sites and the neuropsychiatric disorders in these patients is discussed. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:69-73, 2000.

Adolescent↗
PubMed1999

Movements in autistic disorder.

Autistic disorder, an extremely disabling syndrome with onset in early childhood, is associated with multiple comorbid conditions. Although autistic disorder is heterogeneous in its manifestations, there is a subgroup of individuals with autistic disorder who display movements that appear to be unique for the disorders. Hand flapping and a variety of movements termed stereotypies may be pathognomonic of autistic disorder. Therefore, identification of a movement disorder characteristic of autistic disorder may imply that the individual has autistic disorder.

Autistic Disorder↗
PubMed2002

No association between the WNT2 gene and autistic disorder.

Autistic disorder is a pervasive neurodevelopmental disorder characterized by deficits in language and social communication, as well as stereotyped patterns of behavior. Peak LOD scores from several genomic screening efforts indicate the presence of an autistic disorder susceptibility locus within the distal long arm of human chromosome 7 (7q31-q35). Wassink et al. [2001: Am J Med Genet 105:406-413] reported that WNT2, located at 7q31, influences genetic risk in autistic disorder. These findings were enhanced when examined in a subset of families with severe language impairment. WNT genes encode secreted growth factor-like proteins that participate in growth regulation, differentiation, and tumorigenesis. We tested for genetic association of two WNT2 variants in an independent data set of 135 singleton and 82 multiplex families. No significant association was found between autistic disorder and the WNT2 genotypes in either the overall data set or in the language-impaired subset of families. However, differences in allele frequencies of the 3' UTR single nucleotide polymorphism between the present population and that of Wassink et al. may account for the inability to detect association between WNT2 and autistic disorder in the present data set. We also screened the two reported autistic disorder mutations previously detected by Wassink et al. We did not identify any activating mutation in the coding region of the WNT2 gene. Thus, we conclude that activating mutations of the WNT2 gene are not a major contributor to the development of autistic disorder in these data.

Adolescent↗
PubMed2001

Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder.

Autistic disorder (MIM 209850) is currently viewed as a neurodevelopmental disease. Reelin plays a pivotal role in the development of laminar structures including the cerebral cortex, hippocampus, cerebellum and of several brainstem nuclei. Neuroanatomical evidence is consistent with Reelin involvement in autistic disorder. In this study, we describe several polymorphisms identified using RNA-SSCP and DNA sequencing. Association and linkage were assessed comparing 95 Italian patients to 186 ethnically-matched controls, and using the transmission/disequilibrium test and haplotype-based haplotype relative risk in 172 complete trios from 165 families collected in Italy and in the USA. Both case-control and family-based analyses yield a significant association between autistic disorder and a polymorphic GGC repeat located immediately 5' of the reelin gene (RELN) ATG initiator codon, as well as with specific haplotypes formed by this polymorphism with two single-base substitutions located in a splice junction in exon 6 and within exon 50. Triplet repeats located in 5' untranslated regions (5'UTRs) are indicative of strong transcriptional regulation. Our findings suggest that longer triplet repeats in the 5'UTR of the RELN gene confer vulnerability to autistic disorder.

Adult↗
PubMed2002

Molecular genetics and animal models in autistic disorder.

Autistic disorder is a behavioural syndrome beginning before the age of 3 years and lasting over the whole lifetime. It is characterised by impaired communication, impaired social interactions, and repetitive interests and behaviour. The prevalence is about 7/10,000 taking a restrictive definition and more than 1/500 with a broader definition, including all the pervasive developmental disorders. The importance of genetic factors has been highlighted by epidemiological studies showing that autistic disorder is one of the most genetic neuropsychiatric diseases. The relative risk of first relatives is about 100-fold higher than the risk in the normal population and the concordance in monozygotic twin is about 60%. Different strategies have been applied on the track of susceptibility genes. The systematic search of linked loci led to contradictory results, in part due to the heterogeneity of the clinical definitions, to the differences in the DNA markers, and to the different methods of analysis used. An oversimplification of the inferred model is probably also cause of our disappointment. More work is necessary to give a clearer picture. One region emerges more frequently: the long arm of chromosome 7. Several candidate genes have been studied and some gave indications of association: the Reelin gene and the Wnt2 gene. Cytogenetical abnormalities are frequent at 15q11-13, the region of the Angelman and Prader-Willi syndrome. Imprinting plays an important role in this region, no candidate gene has been identified in autism. Biochemical abnormalities have been found in the serotonin system. Association and linkage studies gave no consistent results with some serotonin receptors and in the transporter, although it seems interesting to go further in the biochemical characterisation of the serotonin transporter activity, particularly in platelets, easily accessible. Two monogenic diseases have been associated with autistic disorder: tuberous sclerosis and fragile X. A better knowledge of the pathophysiology of these disorders can help to understand autism. Different other candidate genes have been tested, positive results await replications in other samples. Animal models have been developed, generally by knocking out the different candidate genes. Behaviour studies have mainly focused on anxiety and learning paradigms. Another group of models results from surgical or toxic lesions of candidate regions in the brain, in general during development. The tools to analyse these animals are not yet standardised, and an important effort needs to be undertaken.

Animals↗
PubMed2003

Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder.

Autistic disorder is a severe neurodevelopmental disorder most probably caused by a complex interaction of genetic factors. Several genomewide scans identified multipoint LOD score peaks in region 7q32. In this region, UBE2H encodes an E2 enzyme of the ubiquitin-dependent proteolytic system. Mutations in another member of this system, the UBE3A gene, cause Angelman syndrome. The participation of E2 (ubiquitin-conjugating enzymes) or E3 (ubiquitin ligases) enzymes in neural development recently emerged. Given its physical location and function, we examined UBE2H as a candidate for involvement in autistic disorder. We confirmed by reverse transcription-polymerase chain reaction that the UBE2H gene was expressed in the rat and the human central nervous system. The rat UBE2H and human UBE2H deduced amino acid sequences are identical. We screened the seven exons of the UBE2H gene in autistic patients using single-strand conformation analysis. We observed a silent A-->G transition at position 336. A case-control association study was performed using this A/G polymorphism. A significant association was found between the G allele and a subgroup of autistic patients with developmental quotient higher than 30 (P=0.004). Although further studies are required, these results suggest that the UBE2H gene could be one of the 7q-susceptibility loci for autistic disorder.

Autistic Disorder↗
PubMed2005

[Neuropsychology of autistic disorders].

Autistic disorders are pervasive developmental disorders, which are characterised by social, communicative and stereotyped, repetitive behaviour patterns. The onset of these disorders is in early childhood and they are most likely of biological origin. A review of neuropsychological questions and results is presented. Special features are found with regard to intelligence, attention, memory, speech, executive functions, theory of mind and central coherence. The different neuropsychological features are explained in terms of an integrated model which takes into account the elementary functions, systems of functioning and the underlying theoretical concepts. Autistic disorders can be understood as an integration deficit of these different functions.

Autistic Disorder↗
PubMed2000

Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder.

Autistic disorder (AD) is a neurodevelopmental disorder characterized by abnormalities in behavior, communication, and social interactions and functioning. Recently, Cook et al. reported significant linkage disequilibrium with an AD susceptibility locus and a marker, GABRB3 155CA-2, in the gamma-aminobutyric acid(A) (GABA(A)) receptor beta3-subunit gene on chromosome 15q11-q13. This linkage disequilibrium was detected using a multiallelic version of the transmission/disequilibrium test (TDT) in a sample of nuclear families having at least one child with autistic disorder. In an attempt to replicate this finding we tested for linkage disequilibrium with this marker, as well as with three additional markers in and around the GABA(A) receptor beta3-subunit gene, in an independent, clinically comparable set of AD families. Unlike Cook et al., we failed to detect significant linkage disequilibrium between GABRB3 155CA-2 and AD in our sample. We did, however, find suggestive evidence for linkage disequilibrium with a marker, GABRB3, approximately 60 kb beyond the 3' end of beta3-subunit gene. This finding lends support for previous reports implicating the involvement of genes in this region with AD. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:43-48, 2000

Autistic Disorder↗
PubMed2004

Sensory-motor deficits in children with developmental coordination disorder, attention deficit hyperactivity disorder and autistic disorder.

Children who have been diagnosed with any one developmental disorder are very likely to meet diagnostic criteria for some other developmental disorder. Although comorbidity has long been acknowledged in childhood disorders, little is understood about the mechanisms that are responsible for the high level of comorbidity. In a series of studies, we have investigated the link between sensory-motor deficits and developmental disorders. Poor sensory-motor integration has long been implicated as a cause of motor problems in developmental disorders such as developmental coordination disorder (DCD), and our recent research has also investigated sensory-motor deficits in children with attention deficit hyperactivity disorder (ADHD) and autistic disorder. Based on a critical examination of relevant literature and some of our recent research findings, we argue that the importance of poor sensory-motor functioning in discriminating children with different disorders has been underestimated. Poor sensory-motor coordination appears to be linked to DCD, but not ADHD. Also, sensory-motor deficits in children with DCD and autistic disorder may provide insight into some of the social difficulties found in these groups of children. This research will increase our understanding of why children with one developmental disorder typically also have problems in other areas.

Attention Deficit Disorder with Hyperactivity↗
PubMed1997

An open clinical trial of risperidone monotherapy in young children with autistic disorder.

Autistic disorder (AD) may be associated with dysfunctional behaviors which significantly interfere with a child's functioning. Risperidone has been described as having salutary effects as an adjunctive pharmacotherapy in adult and pediatric patients with AD. The purpose of this 8-week, open-label study was to examine the effectiveness and tolerability of risperidone monotherapy in young patients with AD. Doses of risperidone were to be started at 0.25 mg qhs and were titrated to maximize clinical efficacy. Six patients (ages 5 to 9 years) were enrolled in this protocol, and all completed it. After 8 weeks of treatment, with a mean risperidone dose of 1.1 mg, improvement in symptomatology was demonstrated by reduced scores on both the Children's Psychiatric Rating Scale (p < .005) and the Clinical Global Impressions Scale (p < .001). The most common side effect were weight gain and sedation. This study provides preliminary evidence that risperidone monotherapy may be safe and effective in ameliorating dysfunctional behaviors in children with AD.

Antipsychotic Agents↗
PubMed2002

Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.

Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant disturbances in social, communicative, and behavioral functioning. A two-stage genomic screen analysis of 99 families with AutD revealed suggestive evidence for linkage to chromosome 2q (D2S116 nonparametric sib-pair LOD score [MLS] 1.12 at 198 cM). In addition, analysis of linkage disequilibrium for D2S116 showed an allele-specific P value of <.01. Recently, linkage to the same region of 2q was reported in an independent genome screen. This evidence for linkage increased when analysis was restricted to the subset of patients with AutD who had delayed onset (>36 mo) of phrase speech (PSD). We similarly classified our data set of 82 sib pairs with AutD, identifying 45 families with AutD and PSD. Analysis of this PSD subset increased our support for linkage to 2q (MLS 2.86 and HLOD 2.12 for marker D2S116). These data support evidence for a gene on chromosome 2 contributing to risk of AutD, and they suggest that phenotypic homogeneity increases the power to find susceptibility genes for AutD.

Age of Onset↗
PubMed2002

Genomic screen and follow-up analysis for autistic disorder.

Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant impairment in social, communicative, and behavioral functioning. A genetic basis for AutD is well established with as many as 10 genes postulated to contribute to its underlying etiology. We have completed a genomic screen and follow-up analysis to identify potential AutD susceptibility loci. In stage one of the genome screen, 52 multiplex families (two or more AutD affected individuals/family) were genotyped with 352 genetic markers to yield an approximately 10 centimorgan (cM) grid, inclusive of the X chromosome. The selection criterion for follow-up of interesting regions was a maximum heterogeneity lod score (MLOD) or a maximum nonparametric sib pair lod score (MLS) of at least 1.0. Eight promising regions were identified on chromosomes 2, 3, 7, 15, 18, 19, and X. In the stage two follow-up study we analyzed an additional 47 multiplex families (total=99 families). Regions on chromosomes 2, 3, 7, 15, 19, and X remained interesting (MLOD> or =1.0) in stage two analysis. The peak lod score regions on chromosomes 2, 7, 15, 19, and X overlap previously reported peak linkage areas. The region on chromosome 3 is unique.

Adult↗
PubMed2002

[Decreased beta-phenylethylamine in urine of children with attention deficit hyperactivity disorder and autistic disorder].

beta-phenylethylamine (PEA), a biogenic trace amine, acts as a neuromodulator in the nigrostriatal dopaminergic pathway and stimulates the release of dopamine. To clarify the mechanism of neurochemical metabolism in attention deficit hyperactivity disorder (ADHD), we measured the urine levels of PEA using gas chromatography-chemical ionization-mass spectrometry. The urinary levels of 3-methoxy-4-hydroxyphenyl glycol (MHPG), homovanillic acid (HVA), and 5-hydroxy-indoleacetic acid (5-HIAA) were determined by high performance liquid chromatography. Urine samples were collected in a 24 hour period. Findings were compared with those obtained from controls (N = 15), children with ADHD (N = 15), and children with autistic disorder (AD) (N = 5). The mean urinary levels of MHPG, HVA, and 5-HIAA in the children with ADHD were not significantly different from those of the controls or those with AD, whereas PEA levels were significantly lower in children with ADHD (11.23 +/- 13.40 micrograms/g creatinine) compared with controls (56.01 +/- 52.18 micrograms/g creatinine). PEA and MHPG levels in children with AD (14.75 +/- 14.37 micrograms/g creatine, 1.10 +/- 0.61 micrograms/mg creatine, respectively) were significantly decreased compared to controls (MHPG, 2.2 +/- 0.9 micrograms/mg creatine). The decreased urine PEA in children with ADHD and AD may suggest a common underlying pathophysiology. The decreased urine MHPG in children with AD might indicate the existence of an alteration in central and peripheral noradrenergic function.

Analysis of Variance↗
PubMedDate not supplied

Teaching children with attention deficit hyperactivity disorder (ADHD) and autistic disorder (AD) how to swallow pills.

One barrier to medication adherence in pediatric populations is difficulty swallowing pills. Some children may not have prerequisite skills for pill swallowing, while others may have developed conditioned anxiety from repeated negative experiences. Eight children with attention deficit hyperactivity disorder or autistic disorder participated in behavioral training to increase cooperation with pill swallowing. A pill-swallowing protocol was utilized during practice sessions with placebo "pills" of increasing size to implement systematic desensitization. Seven of the 8 children swallowed medication with a therapist. Six of the 8 children maintained treatment gains over time. Interventions used to succeed with these children are presented along with methods to reduce conditioned behavioral distress.

Administration, Oral↗
PubMed1991

Catatonia in autistic disorder: a sign of comorbidity or variable expression?

Catatonia, once solely attributed to schizophrenia, is now thought to be associated with many disorders. Autistic disorder shares some symptoms with catatonia, namely, mutism, echopraxia/echolalia, and sterotypes. Catatonia in autism may therefore be a variant of the autistic condition. However, organic deficits and psychiatric disorders, such as bipolar disorder, have also been deficits and psychiatric disorders, such as bipolar disorder, have also been linked with the manifestation of catatonia. Individuals with autism presenting with these comorbid conditions may therefore be at increased risk for catatonia. Little is written of the association of autism and catatonia to clarify the possibility of catatonia as a variant or a sign of a comorbid condition. The authors discuss three autistic patients and suggest specific etiologies for the symptoms of catatonia which presented in these cases. The therapeutic and diagnostic importance of comorbid disorders in autism is stressed.

Adult↗
PubMed1996

A double-blind, placebo-controlled study of fluvoxamine in adults with autistic disorder.

BACKGROUND: Autistic disorder is characterized by a fundamental disturbance in social interaction, impairments in communication, and a markedly restricted repertoire of activities and interests. Abnormalities in the serotonin neurotransmitter system have been identified in some persons with autism. No consistently effective and safe drugs have been developed for treating the symptoms of autism. METHODS: Thirty adults with autistic disorder completed a 12-week double-blind, placebo-controlled trial of the potent and selective serotonin uptake inhibitor fluvoxamine maleate. Behavioral ratings were obtained at baseline and after 4, 8, and 12 weeks of treatment. RESULTS: Eight (53%) of 15 patients in the fluvoxamine-treated group were categorized as responders compared with none of 15 in the placebo group (P = .001). Fluvoxamine was superior to placebo in reducing repetitive thoughts and behavior (P < .001), maladaptive behavior (P < .001), and aggression (P < .03), and in improving some aspects of social relatedness (P < .04), especially language usage (P < .008). Treatment response was not correlated with age level of autistic behavior, or full-scale IQ. Other than mild sedation and nausea in a few patients, fluvoxamine was well tolerated. No dyskinesias, adverse cardiovascular events, or seizures occurred. CONCLUSIONS: Fluvoxamine is more effective than placebo in the short-term treatment of the symptoms of autistic disorder in adults. Controlled studies of fluvoxamine and other potent and selective serotonin uptake inhibitors seem warranted in children and adolescents with autism.

Adolescent↗
PubMed2004

Validity of childhood disintegrative disorder apart from autistic disorder with speech loss.

In order to test clinical validity of DSM-IV childhood disintegrative disorder (CDD), 10 CDD children (mean age = 8.2 years, SD = 3.8; 7 male and 3 female) and 30 age- and gender-matched children with DSM-IV autistic disorder (AD) with speech loss (SL) (ADSL) were compared on 24 variables not directly related to CDD criteria. Compared with the ADSL children, the CDD children showed fearfulness significantly more frequently during the period of SL; displayed epilepsy significantly more frequently and stereotypy significantly more prominently at first visit on average about 6 years after SL; and had significantly less uneven intellectual profile at first visit to support the validity of CDD to a certain extent. No significant difference in the retardation level at first visit between the two groups suggested no worse short-term outcome in CDD than ADSL, although a long-term prospective study to compare them from infancy is needed.

Autistic Disorder↗