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PubMed2004

Methylphenidate for pervasive developmental disorders: safety and efficacy of acute single dose test and ongoing therapy: an open-pilot study.

OBJECTIVE: The aim of this study was to investigate the effects of ongoing methylphenidate (MPH) on ADHD-related and autistic symptoms in Pervasive Developmental Disorders (PDD) in children who did not present any adverse effects to an initial acute dose administered at the clinic. METHODS: Participants included 13 subjects (12 males, with a mean age of 7.9 years) with PDD and moderate to severe hyperactivity/impulsivity. The severity of the symptoms assessment was based on Clinical Global Impression (CGI), Childhood Autism, Child Psychiatric and Conners Parent and Teacher Rating Scales (CPRS). Scores at baseline, and after 1 and 3 months of treatment, were compared to intent-to-treat analyses. RESULTS: One (1) hour after a single MPH dose (0.4 mg/kg), 5 subjects exhibited increased hyperactivity, stereotypes, dysphoria, or motor tics and were rated as minimally or much worse on the CGI Global Improvement Scale. They received no further treatment with MPH. Four (4) of the remaining subjects were rated as improved, and four as unchanged; they proceeded to a 12-week open trial of MPH. Two children remained unchanged: they discontinued treatment after 1 week on maximally tolerated doses. However, in group analyses, behavioral measures of hyperactivity and impulsivity improved significantly, while autism core symptom measures were unaffected. No significant adverse effects were observed in any of the 8 subjects. CONCLUSIONS: Administering a single MPH test dose may be useful in identifying children with PDD who may benefit from prolonged therapy.

Adolescent↗
PubMed2006

Integrity of lateral and feedbackward connections in visual processing in children with pervasive developmental disorder.

Enhanced visual detail processing in subjects with pervasive developmental disorder (PDD) has been related to impairments in feature integration. The functional integrity of two types of neuronal connections involved in visual feature integration, namely horizontal and feedbackward connections, were tested. Sixteen children with PDD and 17 age- and IQ-matched control children (mean age 13.3 years) were included. In a texture segregation task the difference in ERP response to homogeneous and checkered visual stimuli was determined. Additionally, in a contour integration task subjects had to point out a contour consisting of colinearly aligned Gabor signals in backgrounds increasing in noise. Children with PDD showed a normal performance on the contour integration task, suggesting that neurons in the primary visual cortex of children with PDD can effectively integrate the activity of local detectors that process different aspects of the same object information by making use of long-range lateral connections. The amplitude of ERP activity related to texture segregation was also not different between the PDD and control groups, indicating functional visual feedback mechanisms between V1 and higher order areas in subjects with PDD. However, a difference in latency of texture-segmentation related activity between the groups was noted. This effect did not reach significance, which could be due to the small N of the study. Therefore, the data need replication in a study with larger samples before more definitive conclusions can be drawn.

Adolescent↗
PubMed2005

Prevalence of pervasive developmental disorders in children and adolescents with mental retardation.

BACKGROUND: Insight into the prevalence of pervasive developmental disorder (PDD) in children and adolescents with mental retardation (MR) is known to be of clinical importance. However, estimating this prevalence is complicated. The literature reports prevalence rates ranging from 3% through 50%. This variation seems to be related to the concepts of PDD under study, the instruments used, and the studied populations. The present study aimed to estimate a reliable prevalence rate of PDD. METHODS: A total population-based screening with the PDD-MRS and the ABC (n=825) was followed by further assessment of children and adolescents at high risk for PDD according to these instruments, and for controls, with the ADI-R, ADOS-G and a DSM-IV-TR classification (n=188). RESULTS: The instruments lead to different prevalence rates that range from 7.8% to 19.8%. The differences in the estimated prevalence rates are related to the concept of PDD and the instruments they represent. The DSM-IV-TR prevalence (16.7%) seems to be the most reliable and well-founded estimate, since this prevalence rate is based on information from multiple informants and multiple time periods. CONCLUSIONS: The reported prevalence rates provide policy makers with an up-to-date and more substantiated guideline for the allocation of resources for children and adolescents with MR and PDD. The height of the prevalence should alert professionals that PDD is widespread in the population with MR.

Adolescent↗
PubMed2006

Atomoxetine for attention-deficit/hyperactivity disorder symptoms in children with pervasive developmental disorders: a pilot study.

OBJECTIVE: This pilot study examined the effects of atomoxetine on attention-deficit/hyperactivity disorder (ADHD) symptoms and autistic features in children with pervasive developmental disorders (PDD). METHOD: Twelve children (aged 6-14 years) with PDD accompanied by ADHD symptoms entered a 10-week open-label study with atomoxetine (1.19 +/- 0.41 mg/kg/day). Response was assessed by using parent and clinician rating scales with change in the ADHD-Rating Scale (ADHDRS) as primary outcome measure. RESULTS: Atomoxetine reduced ADHD-symptoms as measured by the ADHDRS (44% decrease vs. baseline, p < 0.003), the Conners' Parent Rating Scale-R:S (CPRS-R) (25% in the subscale "Cognitive Problems," p < 0.028; 32% in "Hyperactivity," p < 0.030; and 23% in "ADHD index," p < 0.023). We found a reduction of 21% (p = 0.071) for changes in the subscale "Hyperactivity" of the Aberrant Behavior Checklist (ABC). No change was found in any of the other ABC subscales, nor in the subscale "Oppositional" of the CPRS-R. Five patients (42%) discontinued because of side effects. Gastrointestinal symptoms, irritability, sleep problems, and fatigue were the most frequent side effects. CONCLUSIONS: These preliminary findings indicate that atomoxetine may be a promising new agent in the treatment of ADHD symptoms in children with PDD. However, children with PDD may have a higher vulnerability for some of the known side-effects of atomoxetine.

Adolescent↗
PubMed2002

Gaze behavior of children with pervasive developmental disorder toward human faces: a fixation time study.

BACKGROUND: The abnormal gaze behavior of autistic children toward human faces, as observed in daily-life situations, are investigated in two fixation time studies. It has been argued that faces are a special kind of stimuli for normal individuals and that this might not be the case for autistic children. METHODS: A group of high-functioning autistic children (including a group of sub-threshold PDD-NOS children) was compared with a group of normal children, with respect to their fixation behavior for photographs of human faces. Using an infrared eye-tracking device, fixation times for the whole face and for the facial elements of faces were compared between the two groups. The first study dealt with faces having an emotional expression. The second study dealt with neutral faces presented either upright or upside-down. RESULTS: Results of the two studies showed that autistic children have the same fixation behavior as normal children for upright faces, with or without an emotional expression. Furthermore, results of the second study showed that normal children spent less time looking at upside-down faces, but that the fixation times of autistic children were not influenced by the orientation of the faces. CONCLUSIONS: These results plead against the notion that the abnormal gaze behavior in everyday life is due to the presence of facial stimuli per se. Furthermore, the absence of a face orientation effect in autistic children might be a reflection of a lack of holistic processing of human faces in autism.

Attention↗
PubMed2005

An open-label trial of escitalopram in pervasive developmental disorders.

OBJECTIVE: To assess the effect of escitalopram in the treatment of pervasive developmental disorders (PDDs). METHOD: This 10-week study had a forced titration, open-label design. Twenty-eight subjects (mean age 125.1 +/- 33.5 months) with a PDD received escitalopram at a dose that increased weekly to a maximum dose of 20 mg as tolerated. The Aberrant Behavior Checklist-Community Version (ABC-CV) and the Clinical Global Impression scale (CGI) were used to assess outcome. RESULTS: There was significant improvement in ABC-CV Irritability Subscale Scores (baseline mean 20.5 +/- 5.9 to final mean 10.9 +/- 7.2; p < or = .001) and in the other ABC-CV Subscales. Improvement on Clinical Global Improvement Scale severity rating was also significant (baseline mean 5.2 +/- 1.0 to final mean 4.6 +/- 1.2; p < or = .001). Twenty-five percent of the subjects responded at a dose less than 10 mg and did not tolerate the 10-mg dose, and an additional 36% responded at a dose greater than or equal to 10 mg. Final dose was unrelated to weight and only weakly correlated with age. CONCLUSIONS: This open-label study found escitalopram to be useful in treating some difficulties common in PDDs. A wide variability in dose was found that could not be accounted for by weight and only partially by age. The study provides information useful for the design of double-blind, placebo-controlled studies of escitalopram in PDDs.

Adolescent↗
PubMed2003

[Delinquency by a juvenile with pervasive developmental disorder: a case in which interaction between disorder and family dysfunction played a key role].

Pervasive Developmental Disorder (PDD) is characterized by peculiar psycho-behavioral patterns. Youths with PDD who commit delinquent acts often exhibit strange behavior beyond ordinary comprehension. In order to fully understand and identify PDD it is important to take a comprehensive psychosocial history. Here we report on a 19-year-old delinquent male from a juvenile detention home who was exhibiting PDD. Both the psycho-behavioral patterns of the subject and the dysfunctional family background were key factors in this case. The subject persistently stalked and harassed an elementary school girl despite repeated intervention by police and the girl's parents to stop doing so. This behavior culminated in the subject being arrested and put on probation. While on probation his behavior continued, leading to his arrest and confinement to a correctional facility for juveniles with medical needs. Several features that included sustained impairment in social interaction and repetitive patterns of behavior that are often identified in delinquents with PDD were found to exist in the subject and he was diagnosed with PDD (probably Asperger's disease). The subject presented with a superficial understanding of the consequences his behavior had on others and for himself. Also, impaired family function was found to be a major contributing factor to his delinquency. Together theses factors hindered the subject from acquiring appropriate social skills. The major responsibility for providing care and support of an individual with PDD is within the family. Failure of the family to undertake such responsibilities can lead to ineffective treatment even after a specialist has identified the disorder. Given the slow decline of the nuclear family in Japan, it is important to understand the role of the family in caring for a child with PDD. Also, public recognition of PDD and social support for individuals with the disorder is important.

Adolescent↗
PubMed2006

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.

BACKGROUND: Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by a symptomatic triad associated with qualitative changes in social interactions, defect in communication abilities, and repetitive and stereotyped interests and activities. ASD is prevalent in 1 to 3 per 1000 people. Despite several arguments for a strong genetic contribution, the molecular basis of a most cases remains unexplained. About 5% of patients with autism have a chromosome abnormality visible with cytogenetic methods. The most frequent are 15q11-q13 duplication, 2q37 and 22q13.3 deletions. Many other chromosomal imbalances have been described. However, most of them remain undetectable using routine karyotype analysis, thus impeding diagnosis and genetic counselling. METHODS AND RESULTS: 29 patients presenting with syndromic ASD were investigated using a DNA microarray constructed from large insert clones spaced at approximately 1 Mb intervals across the genome. Eight clinically relevant rearrangements were identified in 8 (27.5%) patients: six deletions and two duplications. Altered segments ranged in size from 1.4 to 16 Mb (2-19 clones). No recurrent abnormality was identified. CONCLUSION: These results clearly show that array comparative genomic hybridisation should be considered to be an essential aspect of the genetic analysis of patients with syndromic ASD. Moreover, besides their importance for diagnosis and genetic counselling, they may allow the delineation of new contiguous gene syndromes associated with ASD. Finally, the detailed molecular analysis of the rearranged regions may pave the way for the identification of new ASD genes.

Adolescent↗
PubMed1997

Clomipramine in adults with pervasive developmental disorders: a prospective open-label investigation.

The purpose of this investigation was to determine the short-term efficacy and tolerability of clomipramine in a consecutive series of adults with pervasive developmental disorders (PDDs). Thirty-five adults with PDDs (DSM-IV), 16 of whom were nonverbal, entered a 12-week prospective open-label trial of clomipramine. The initial sample included 18 patients with autistic disorder, 6 patients with Asperger's disorder, and 11 patients with pervasive developmental disorder not otherwise specified (PDDNOS). Behavioral ratings were obtained at baseline and after 4, 8, and 12 weeks of clomipramine. Eighteen (55%) of the 33 patients who completed the trial were categorized as treatment responders based on scores of "much improved" or "very much improved" on the Clinical Global Impression (CGI) global improvement item (p < 0.001). Ten (63%) of 16 patients with autistic disorder, 2 (33%) of 6 patients with Asperger's disorder, and 6 (55%) of 11 patients with PDDNOS were considered responders to clomipramine treatment. In those 18 patients, clomipramine significantly reduced total repetitive thoughts and behavior (p < 0.001) and also aggression (p < 0.001), and improved some aspects of social relatedness, such as eye contact and verbal responsiveness (p < 0.001). Change in these specific symptom clusters over time was not related to DSM-IV subtype of PDD. The level of autistic behavior, as measured by the Autism Behavior Checklist (ABC) score, and full-scale intelligence quotient (IQ) were not significantly associated with global treatment response. Whereas clomipramine was well tolerated by most patients, 13 had clinically significant adverse effects. Three patients had seizures during clomipramine treatment, including 2 who had prior seizure disorders and were taking anticonvulsants. Of the 32 patients who had no history of prior seizures, only 1 had a seizure during clomipramine treatment. There were no adverse cardiovascular or extrapyramidal effects. All responders continued on clomipramine after completion of the study. The results of this open-label trial suggest that clomipramine may be an effective drug for reducing repetitive thoughts and actions and aggressive behavior and for improving some elements of social behavior, such as eye contact and verbal responsivity in adults with PDDs. Careful monitoring of adverse effects, particularly seizures, is warranted. Although an electroencephalogram (EEG) is not mandatory in patients with PDD prior to clomipramine treatment, we recommend that patients with PDD and a history of seizures be treated initially with a selective serotonin uptake inhibitor rather than with clomipramine. The findings of this study require replication in a double-blind placebo-controlled investigation before definitive statements of efficacy and tolerability can be made.

Adolescent↗
PubMed2004

Specifying PDD-NOS: a comparison of PDD-NOS, Asperger syndrome, and autism.

OBJECTIVE: To describe the clinical characteristics of children given a diagnosis of pervasive developmental disorder-not otherwise specified (PDD-NOS) by expert clinicians and to compare these to the clinical characteristics of children given a diagnosis of autism and Asperger syndrome (AS). METHOD: Two hundred sixteen children with autism, 33 with AS, and 21 with PDD-NOS were compared on measures of level of functioning (communication, daily living and social skills, IQ, and age of acquisition of language) and on various symptoms of autism (impaired communication and reciprocal social interaction and a preference for repetitive and stereotyped activities). RESULTS: In terms of level of functioning measures, the PDD-NOS children had scores that were between those of the children with autism and those of the children with AS. In contrast, the PDD-NOS group had fewer autistic symptoms, especially repetitive stereotyped behaviors, than both the autism and AS groups (chi2 = 11.06, p =.004). Children with PDD-NOS could be placed into one of three subgroups: a high-functioning group (24%) who resembled AS but had transient language delay or mild cognitive impairment; a subgroup resembling autism (24%) but who had late age of onset or too severe cognitive delays or were too young to potentially meet the full diagnostic criteria for autism; and a group (52%) not fulfilling the criteria for autism because of fewer stereotyped and repetitive behaviors. CONCLUSIONS: With some revision to current diagnostic criteria, a more homogenous atypical group with significant impairments in social-communication but fewer repetitive behaviors can be differentiated from the more nonspecific PDD-NOS group. This differentiation may lead to better reliability in diagnosis and to further progress in studies of etiology.

Asperger Syndrome↗
PubMed2004

Pervasive developmental disorder and childhood-onset schizophrenia: comorbid disorder or a phenotypic variant of a very early onset illness?

BACKGROUND: Childhood-onset schizophrenia (COS) is a severe form of the adult-onset disorder with a high rate of premorbid developmental abnormalities. Early symptoms of pervasive developmental disorder (PDD) have been reported in five independent studies of COS. In this study, we compared evidence for premorbid PDD as a nonspecific manifestation of impaired neurodevelopment seen in schizophrenia, or as an independent risk factor for COS. METHODS: Diagnosis of past or current autism or PDD was made according to the DSM-IV criteria. COS patients with and without PDD were compared with respect to neuropsychological, clinical, and neurobiological measures. Several candidate genes for autism were examined in the entire COS sample and the subgroup with PDD using the Transmission Disequilibrium Test (TDT) and Quantitative TDT (QTDT). RESULTS: Nineteen (25%) of COS probands had a lifetime diagnosis of PDD: one met criteria for autism, two for Asperger's disorder, and 16 for PDD not otherwise specified. Premorbid social impairment was most common feature for COS-PDD subjects. The PDD group did not differ from the rest of the COS sample with respect to age of onset, IQ, response to medications, and rate of familial schizotypy. Unexpectedly, two siblings of COS-PDD probands met criteria for nuclear autism. There was no difference between PDD and non-PDD groups with respect to initial brain magnetic resonance imaging (MRI) measures. However, rate of gray matter loss was greater for PDD (n = 12) than for the non-PDD (n = 27) subgroup (-19.5 +/- 11.3 mL/year vs. -9.6 +/- 15.3 mL/year; p =.05). None of eight candidate genes for autism were associated with COS or COS-PDD. CONCLUSIONS: Premorbid PDD in COS is more likely to be a nonspecific marker of severe early abnormal neurodevelopment. However, the occurrence of two siblings of COS-PDD probands (17%) with nuclear autism remains to be understood.

Adolescent↗
PubMed2004

EEG sedation for children with autism.

Seizures are reported to occur more frequently among children with diagnoses of autism and pervasive developmental disorder (PDD), and some reports indicate a frequency as high as 30%. Sedation is often necessary to perform diagnostic electroencephalograms (EEGs) in these children, who are known to be difficult to sedate with current available pediatric sedating agents, including chloral hydrate. We used clonidine as a sedative agent in children with autism and PDD, and our findings are presented. In a prospective study, 27 children with autism and PDD diagnoses underwent conscious sedation for EEG recording. Informed consents were obtained, and clonidine was administered orally as a sedating agent in a dose ranging from 0.05 mg to 0.2 mg. Subjects were monitored for pulse rate, respiration rate, blood pressure, and oxygen saturation on a continuous basis by a registered nurse. Study parameters included time to induction, time to recovery, changes in vital signs, and technical quality of EEGs. Sedation was achieved in 23 of 27 patients (85%) per our sedation criteria, and this included five patients who had previously failed to be sedated with chloral hydrate. Two patients did not satisfy the sedation criteria but cooperated enough to allow acceptable EEG tracings, increasing the success rate to 93% (25/27). The mean time to achieve sedation was 58 minutes, and the mean time to recovery was 105 minutes. Two patients (0.07%) experienced an asymptomatic heart rate reduction up to 40%, which was not sustained and recovered promptly without any intervention. Two patients (0.07%) experienced systolic blood pressure reductions of 30% and 40%. They remained asymptomatic, had no changes in other cardiorespiratory parameters, and required no intervention. All EEGs were of good technical quality without any "drug effect." Clonidine is a viable alternative for sedation in children with autism and PDD. It is well tolerated without any significant side effects and is efficacious in children with autism and PDD. The advantages of clonidine include ease of administration, shorter duration of total sedation, lack of EEG drug effect, and high overall success rate.

Autistic Disorder↗
PubMed1993

Children at risk for schizophrenia: the Jerusalem Infant Development Study. II. Neurobehavioral deficits at school age.

The development of school-age children born to parents with serious mental disorders was assessed on a variety of perceptual-cognitive and motoric tasks. These same children have been followed up from birth as part of the Jerusalem Infant Development Study. Children with schizophrenic parents, when compared with children with healthy parents or parents having other psychiatric disorders, were more likely to show neurobehavioral dysfunctioning in perceptual-cognitive and motoric areas. Forty-four percent of the offspring of schizophrenics (11 of 25 subjects) showed such dysfunctioning. Male subjects were overrepresented in this poorly functioning group. A stable subgroup (40%) of the offspring of schizophrenics (six of 15 subjects) showed dysfunctioning during infancy and school age. None of the offspring of nonschizophrenic parents showed dysfunctioning during both age periods. While most of the poorly functioning children with schizophrenic parents showed perceptual-cognitive and motoric signs, only perceptual-cognitive signs were strongly linked to parental diagnosis and infant dysfunctioning. Motoric signs, but not cognitive signs, were related to pregnancy and birth complications. These findings provide further support to the schizotaxia hypothesis that some neurointegrative deficits may reflect vulnerability to schizophrenia and that these deficits are clearly apparent at school age, long before the onset of illness. However, these signs are not exclusive to schizophrenic illness, although they occur with a greater prevalence in this group. Definitive statements about the validity of early neurobehavioral signs as indicators of genetic vulnerability await further longitudinal follow-up into the age of risk for actual schizophrenic breakdown or when a diagnosis of schizotypal personality disorder may be made.

Adolescent↗
PubMed2006

Music therapy for autistic spectrum disorder.

BACKGROUND: The central impairments of people with autistic spectrum disorder (ASD) include social interaction and communication. Music therapy uses music and its elements to enable communication and expression, thus attempting to address some of the core problems of people with ASD. OBJECTIVES: To review the effects of music therapy for individuals with autistic spectrum disorders. SEARCH STRATEGY: The following databases were searched: CENTRAL, 2005, (Issue 3); Medline, (1966 to July 2004); Embase, (1980 to July 2004); LILACS, (1982 to July 2004); PsycINFO, (1872 to July 2004); CINAHL, (1982 to July 2004); ERIC, (1966 to July 2004); ASSIA, (1987 to July 2004); Sociofile, (1963 to July 2004); Dissertation Abstracts International, (late 1960's to July 2004). These searches were supplemented by searching specific sources for music therapy literature and manual searches of reference lists. Personal contacts to some investigators were made. SELECTION CRITERIA: All randomised controlled trials or controlled clinical trials comparing music therapy or music therapy added to standard care to "placebo" therapy, no treatment or standard care. DATA COLLECTION AND ANALYSIS: Studies were independently selected, quality assessed and data extracted by two authors. Continuous outcomes were synthesised using a standardised mean difference (SMD) in order to enable a meta-analysis combining different scales, and to facilitate the interpretation of effect sizes. Heterogeneity was assessed using the I(2) statistic. MAIN RESULTS: Three small studies were included (total n = 24). These examined the short-term effect of brief music therapy interventions (daily sessions over one week) for autistic children. Music therapy was superior to "placebo" therapy with respect to verbal and gestural communicative skills (verbal: 2 RCTs, n = 20, SMD 0.36 CI 0.15 to 0.57; gestural: 2 RCTs, n = 20, SMD 0.50 CI 0.22 to 0.79). Effects on behavioural problems were not significant. AUTHORS' CONCLUSIONS: The included studies were of limited applicability to clinical practice. However, the findings indicate that music therapy may help children with autistic spectrum disorder to improve their communicative skills. More research is needed to examine whether the effects of music therapy are enduring, and to investigate the effects of music therapy in typical clinical practice.

Autistic Disorder↗
PubMed2002

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.

A child and his mother were found to be mosaic for a small supernumerary marker chromosome (SMC) that was identified and characterized by means of fluorescent in situ hybridization. The marker chromosome was derived from the pericentromeric region of chromosome 2; the involvement of proximal 2q was determined by YAC probes. The proband was referred because of psychotic illness and mild mental retardation, whereas his mother presented only minor dysmorphisms. There are only a few published reports concerning SMC(2) or proximal 2q trisomy. We reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important when SMCs are identified in prenatal diagnosis.

Adult↗
PubMed2002

No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network.

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.

Asperger Syndrome↗
PubMed2006

Autism spectrum disorders: molecular genetic advances.

Despite the strong genetic basis of autism spectrum disorders (ASD), research efforts in the last decade have not been successful in the identification of confirmed susceptibility genes. We review the present status of genetic linkage, candidate gene, and association studies, pointing out the limitations of these approaches and the challenge of dealing with the clinical and genetic complexity of autism. Finally, we outline how recent technological and bioinformatic advances, together with an increasing understanding of the structure of the human genome, have set the stage to perform more comprehensive and well powered studies, possibly leading to a turning point in the understanding of the genetic basis of this devastating disorder.

Child↗
PubMed2006

Mouse models of autism spectrum disorders: the challenge for behavioral genetics.

Autism is a severe neurodevelopmental disorder, which typically emerges early in childhood. The core symptoms of autism include deficits in social interaction, impaired communication, and aberrant repetitive behavior, including self-injury. Despite the strong genetic component for the disease, most cases of autism have not been linked to mutations in a specific gene, and the etiology of the disorder has yet to be established. At the present time, there is no generally accepted therapeutic strategy to treat the core symptoms of autism, and there remains a critical need for appropriate animal models and relevant behavioral assays to promote the understanding and treatment of the clinical syndrome. Challenges for the development of valid mouse models include complex genetic interactions underlying the high heritability of the disease in humans, diagnosis based on deficits in social interaction and communication, and the lack of confirmatory neuropathological markers to provide validation for genetic models of the disorder. Research focusing on genes that mediate social behavior in mice may help identify neural circuitry essential for normal social interaction, and lead to novel genetic animal models of the autism behavioral phenotype.

Animals↗