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PubMed2001

Pervasive developmental disorders and GABAergic system in patients with inverted duplicated chromosome 15.

Pervasive developmental disorders are characterized by severe, pervasive impairment in several areas of development, with distorted communication skills and stereotypical behavior. Pervasive developmental disorders have a heterogeneous etiology related to brain damage, familial affective psychopathology, chromosomal abnormalities, or dysfunction of neuromodulators. Recently, it has been suggested that the GABRB3 gene, located within chromosome 15q11-13, is a candidate for pervasive developmental disorder. In inverted duplicated chromosome 15 syndrome, in which there is a small marker chromosome derived from inversion and duplication of the chromosome 15q11-q13 region, all patients present with pervasive developmental disorder. To further investigate a possible involvement of the gamma-aminobutyric acid (GABA)ergic system in the inverted duplicated chromosome 15 syndrome, we evaluated plasma levels of GABA and diazepam binding inhibitor in 6 patients with inverted duplicated chromosome 15 and in 8 subjects not affected by neurologic disease. Our findings do not seem to support this hypothesis as no significant differences were found in the GABA and diazepam binding inhibitor plasma levels between patients with inverted duplicated chromosome 15 and controls, but we must consider the possibility that a genetic abnormality of the GABA(A) receptor could be present in patients with inverted duplicated chromosome 15 and still not be reflected in an alteration in either GABA or diazepam binding inhibitor levels in plasma.

Adolescent↗

PubMed2006

Open-label atomoxetine for attention-deficit/ hyperactivity disorder symptoms associated with high-functioning pervasive developmental disorders.

OBJECTIVE: The aim of this study was to conduct an initial evaluation of the efficacy of atomoxetine for attention-deficit/hyperactivity disorder (ADHD) symptoms in children with pervasive developmental disorders (PDDs). METHOD: Children with PDDs and a nonverbal IQ of >or=70 received atomoxetine (target dose 1.2-1.4 mg/kg/day) during the course of an 8-week, open-label, prospective study. Standardized assessments of efficacy and tolerability were collected at regular intervals during the trial. RESULTS: Sixteen children and adolescents (mean age 7.7 +/- 2.2 years, age range 6-14 years) with autistic disorder (n = 7), Asperger's disorder (n = 7), or PDD not otherwise specified (n = 2) received atomoxetine (mean dose 1.2 +/- 0.3 mg/kg/day). Twelve participants (75%) were rated as "much" or "very much improved" on the Clinical Global Impressions-Improvement scale. The most significant improvement was seen in the area of ADHD symptoms as measured by the SNAP-IV and Aberrant Behavior Checklist (effect size = 1.0-1.9). Improvements of lesser magnitude (effect size = 0.4-1.1) were seen in irritability, social withdrawal, stereotypy, and repetitive speech. There were no significant changes on the Conners' Continuous Performance Test. Atomoxetine was well tolerated with the exception of 2 participants (13 %) who stopped medication due to irritability. Weight decreased by a mean of 0.8 kg during the 8-week trial. CONCLUSIONS: Placebo-controlled studies are indicated to determine atomoxetine's efficacy for ADHD symptoms in PDDs.

Adolescent↗

PubMed2006

Pervasive developmental disorder, behavior problems, and psychotropic drug use in children and adolescents with mental retardation.

OBJECTIVE: This study investigated the interrelationship between psychopharmacotherapy in general and the use of specific psychotropic drugs and pervasive developmental disorder and other behavior problems in children and adolescents with mental retardation. METHODS: A total of 862 participants 4 to 18 years of age, including all levels of mental retardation, were recruited through facilities for children with mental retardation in Friesland, The Netherlands. Information on medication was collected through parent interviews. Behavior problems were investigated with a standardized parent questionnaire (Developmental Behavior Checklist). A pervasive developmental disorder classification was based on the Pervasive Developmental Disorder in Mental Retardation Scale, completed by psychologists or teachers. Logistic regression analysis was used to investigate the relationship between the use of psychotropic drugs and pervasive developmental disorder and other behavioral problems, in the presence of possible confounders. RESULTS: One of 10 participants used psychotropic medication. The main factors associated with psychotropic drug use were pervasive developmental disorder and disruptive behavior. The level of functioning was also associated. Self-absorbed behavior was statistically significantly associated with clonidine use and disruptive behavior with stimulant use. Pervasive developmental disorder and communication problems were the main factors associated with the use of antipsychotic drugs. Age also played a role, whereas gender, living situation, and level of mental retardation did not. CONCLUSIONS: Antipsychotic drugs were associated with pervasive developmental disorder, whereas clonidine and stimulants were associated with self-absorbed and disruptive behavior, respectively. Although clonidine and risperidone are not registered for the problems reported and the other nonstimulants were only sometimes used on-label, their use was associated with specific psychiatric or behavioral problems.

Adolescent↗

PubMed2005

A controlled study of formal thought disorder in children with autism and multiple complex developmental disorders.

UNLABELLED: Along with well-defined categories in classification systems (e.g., autistic disorders and attention-deficit/hyperactivity disorder (ADHD)), practitioners are confronted with many children showing mixed forms of developmental psychopathology. These clusters of symptoms are on the borderlines of more defined categories. The late Donald Cohen proposed heuristic criteria to study a group defined by impaired social sensitivity, impaired regulation of affect, and thinking disorders under the name multiple complex developmental disorders (MCDD). Although these children meet criteria for pervasive developmental disorder--not otherwise specified (PDD-NOS), they have additional important clinical features, such as thought disorder. After highlighting similarities and differences between MCDD and comparable groups (e.g., multidimensionally impaired children), this paper presents the findings of a study comparing formal thought disorder scores in children with MCDD to children with autism spectrum diagnoses, such as autistic disorder (AD), and to children with nonspectrum diagnoses, such as ADHD and anxiety disorders. METHODS: Videotaped speech samples of four groups of high-functioning, latency-aged children with MCDD, AD, ADHD, and anxiety disorders were compared to a control group of normal children using the Kiddie Formal Thought Disorder Rating Scale (K-FTDS). RESULTS: High formal thought disorder scores were found both in the AD and MCDD groups, low rates in the ADHD groups, and no thought disorder in the anxiety disorder and normal control groups. The severity of formal thought disorder was related to verbal IQ scores within the AD and MCDD groups. CONCLUSION: High formal thought scores in children with complex developmental disorders, such as AD and MCDD, appear to reflect impaired communication skills rather than early signs of psychosis.

Anxiety↗

PubMed2005

Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders.

Fragile X syndrome is a frequent genetic disease associated to developmental disorders, including learning disability, mental retardation, behavioral problems and pervasive developmental disorders (autism and related conditions). We studied a sample of 82 individuals (69 males and 13 females) presenting with pervasive developmental disorders using three techniques for the diagnosis of fragile X syndrome (FXS). Cytogenetic analysis detected the fragile site in four males, but only one showed a consistent positive rate. Molecular study based on the PCR technique was inconclusive for most females (92.3%), which where latter submitted to Southern blotting analysis, and for one male (1.4%), excluding the FRAXA mutation in the remaining male individuals (98.6%). Molecular tests using the Southern blotting technique confirmed only one positive case (1.2%) in a male subject. These results showed that Southern blotting analysis of the FRAXA mutation has the best sensitivity and specificity for the diagnosis of FXS but also validated the PCR technique as a confinable screening test.

Asperger Syndrome↗

PubMed2004

Rate of first recorded diagnosis of autism and other pervasive developmental disorders in United Kingdom general practice, 1988 to 2001.

BACKGROUND: There has been concern that the incidence of autism and other pervasive developmental disorders (PDDs) is increasing. Previous studies have been smaller, restricted to autism (excluding other pervasive developmental disorders such as Asperger's syndrome), included boys only, or have not been based on a national sample. We investigated time trends in the rates of diagnosis of pervasive developmental disorders. METHODS: We analysed the rates of first diagnosis of pervasive developmental disorders among people registered with a practice contributing to the United Kingdom General Practice Research Database during the period 1988 to 2001. We included 1410 cases from over 14 million person-years of observation. The main outcome measures were rates of diagnosis of pervasive developmental disorders by year of diagnosis, year of birth, gender and geographical region. RESULTS: The rate increased progressively from 0.40/10,000 person-years (95% CI 0.30 to 0.54) in 1991 to 2.98/10,000 (95% CI 2.56 to 3.47) in 2001. A similar change occurred in the age standardised incidence ratios, from 35 (95% CI: 26-47) in 1991 to 365 (95% CI: 314-425) in 2001. The temporal increase was not limited to children born during specific years nor to children diagnosed in a specific time period. The rate of diagnosis of PDDs other than autism rose from zero for the period 1988-1992 to 1.06/10,000 person-years in 2001. The rate of diagnosis of autism also increased but to a lesser extent. There was marked geographical variation in rates, with standardised incidence ratios varying from 66 for Wales to 141 for the South East of England. CONCLUSIONS: Better ascertainment of diagnosis is likely to have contributed to the observed temporal increase in rates of diagnosis of PDD, but we cannot exclude a real increase.

Asperger Syndrome↗

PubMed2003

Childhood autism rating scale--Tokyo version for screening pervasive developmental disorders.

To assess the utility of the Childhood Autism Rating Scale - Tokyo Version (CARS-TV), its total score was compared among 430 children with DSM-IV per subgroup (i.e. autistic disorder (AD), childhood disintegrative disorder (CDD), Asperger's disorder, and pervasive developmental disorders (PDD) not otherwise specified (PDDNOS)). Values of Cronbach's alpha were 0.91 for the PDD group and 0.89 for the non-PDD mental retardation (MR) group, and 0.93 for both groups combined. The total score was significantly higher in PDD (mean = 30.1, SD = 4.5) than in non-PDD MR (mean = 22.9, SD = 3.3), t(503) = 13.7, P< 0.0001. The cut-off to distinguish PDD from non-PDD MR was 25.5/26, with sensitivity, specificity, positive predictive value and negative predictive value of 0.86, 0.83, 0.97 and 0.50, respectively. The total score differed significantly among the four groups, with CDD and AD being significantly higher than both PDDNOS and Asperger's disorder, PDDNOS being significantly higher than Asperger's disorder and no significant difference between CDD and AD. The cut-off to distinguish AD from PDDNOS was 30/30.5, with sensitivity, specificity, positive predictive value and negative predictive value of 0.71, 0.75, 0.77 and 0.69, respectively. CARS-TV seems to be a useful instrument for differentiating between PDD and non-PDD MR and between AD and PDDNOS, although further replication is needed.

Adolescent↗

PubMed1986

A critical review of DSM-III in the developmental disorder of childhood.

This paper presents a summary and critical review of the DSM-III diagnostic system for childhood psychiatric disorders with particular reference to developmental disorders. The rational for a multiaxial system, explicit diagnostic criteria, and a phenomenological approach are outlined. Criteria for mental retardation, infantile autism, and specific developmental disorders are reviewed. While this system is an advance over previous schemes many problems are also evident. These include a lack of specificity of the criteria, inconsistencies in criteria, and placement on the axes of mental disorders.

Adolescent↗

PubMed1998

[Diagnosis of pervasive developmental disorders without mental retardation and its impact on obtaining social and educational services in Quebec].

Pervasive developmental disorders without mental retardation is a new clinical category including high-functioning autism, Asperger syndrome and pervasive developmental disorder non otherwise specified. Its recognition is recent and still problematic in many regards. This article reviews the historical, theoretical and clinical relations between pervasive developmental disorders without mental retardation and bordering disorders. The consequences of an inadequate diagnosis on measures of assistance for these patients is also investigated. The authors conclude on the necessity in considering, independently of the diagnosis, the description of symptoms, the intellectual level and the adaptative level in order to take the most appropriate educational and psychosocial decisions regarding pervasive developmental disorders without mental retardation.

Child↗

PubMed2003

Neuroimaging in developmental disorders.

PURPOSE OF REVIEW: This review considers the role of neuroimaging in developmental disorders by highlighting recent studies in two distinct, but overlapping, developmental disorders: autism and fragile X syndrome. RECENT FINDINGS: After a decade of conflicting results in neuroimaging studies of autism, recent studies have provided some convergent data. One well-replicated finding is that autistic subjects have larger brains. Further, this enlargement, present as early as 3 years of age, appears to represent accelerated growth in infancy and may be followed by slowed growth in late childhood. Other findings are discussed but considered preliminary in the absence of converging evidence or replication studies. Recent work in fragile X syndrome suggests aberrant fronto-striatal and fronto-parietal networks and relates these abnormalities "forward" to behavior and "backward" to decreased protein expression. SUMMARY: As the field of neuroimaging has matured, it has revealed its promise as a safe, reliable, in-vivo tool in the study of developmental disorders. By insisting on larger, more homogeneous patient groups and longitudinal rather than cross-sectional studies, the field is poised to fulfill its ultimate role of linking defects in molecular biology to aberrant behavior.

Autistic Disorder↗

PubMed2005

Prevalence of overweight in children with developmental disorders in the continuous national health and nutrition examination survey (NHANES) 1999-2002.

OBJECTIVE: To estimate the prevalence of overweight in children identified with developmental disorders on the basis of nationally representative survey data. STUDY DESIGN: We estimated the prevalence of overweight in children with developmental disorders on the basis of a recent large nationally representative survey. The continuous National Health and Nutrition Examination Survey (NHANES) 1999-2002 included 4 questions to identify children with developmental disorders. Height and weight were used to calculate body mass index (BMI). BMI percentiles were estimated relative to the age- and sex-specific Centers for Disease Control and Prevention growth reference. The 85th percentile BMI defined at-risk-for-overweight and the 95th percentile BMI defined overweight. RESULTS: We found a higher prevalence of at-risk-for overweight and overweight among children with limitations in physical activity and a higher prevalence of overweight in girls with learning disabilities, compared with children without these conditions, after adjustment for age and race-ethnicity. CONCLUSION: To the extent that children with developmental disorders are included in large representative surveys, the data suggest that children with developmental disorders have a risk for overweight that is at least as great as that of typically developing children.

Adolescent↗

PubMed1993

Assessing the relationship between affective responsivity and social interaction in children with pervasive developmental disorder.

An investigation of children with pervasive developmental disorder (PDD) was conducted using a new instrument, the Kiddie-Infant Descriptive Instrument for Emotional States (KIDIES). The KIDIES rates several affective and behavioral dimensions based on facial, vocal, gestural, and postural cues. The study's goals were to determine whether the KIDIES could detect individual differences in responsivity among the PDD subjects; to ascertain the KIDIES' sensitivity in identifying group differences between PDD subjects and control children with other developmental disorders. Children were videotaped during episodes with three partners: the mother, a familiar female teacher, an unfamiliar male doctor. Episodes were scored using the KIDIES. PDD subjects were most severely impaired during the Mother episode in comparison to the controls. Equally as striking was the within-episode heterogeneity among PDD subjects. During the Teacher episode, PDD subjects were twice as variable in interpersonal response as the controls.

Affective Symptoms↗

PubMed1995

[Epidemiology of developmental disorders in children in Tel Aviv].

We assessed the prevalence of developmental disorders, the need for intervention, potential for rehabilitation, and also characterized the risk factors, from files of 1,944 children referred during 1981-1990. The study group consisted of 4.3% of the children born in Tel Aviv during this period. Referral was highest between the ages 3-4 years and the causes for referral were language, speech and communication disorders (38%), global developmental delay (20%), motor disorders (16%), and behavioral and emotional problems (15%). Developmental disorders were more prevalent in boys (M/F ratio 1.8:1). 84% had at least 1 risk factor, either pre/perinatal, social or genetic. 66% had a social risk factor requiring involvement of a community social worker, or a parent with a chronic disease. The principal genetic risk factors were a developmental problem in a sibling, and parental consanguinity. The most common perinatal risk factors were birth weight under 2500 grams, hyperbilirubinemia of the newborn and severe asphyxia. Prognosis was good: 83% had normal intelligence and only 10% had severe disability. Upon discharge from the development center at the age of 5 years only 18% required special schooling, but 63% were referred for continuation of rehabilitation services. This study provides multi-disciplinary information that allows planning of requirements for diagnostic, therapeutic and rehabilitation services in the human, logistic and economic fields.

Child↗

PubMed2004

Pervasive developmental disorders, psychiatric comorbidities, and the law.

Scattered reports propose that pervasive developmental disorders (PDDs) are risk factors for criminal behavior, yet the association between PDD and delinquent behavior is untrue for the majority of patients. However, individuals with PDDs may be at risk for legal trouble in the presence of comorbid psychopathology, and not solely on the basis of their developmental disability. This article analyzes theoretically the relationship between complex developmental disorders and delinquency with the hypothesis that the delinquent behaviors reported in it resulted from comorbid psychopathology and not as a direct consequence of a developmental disorder. A small series of patients diagnosed with a PDD and comorbid psychiatric illnesses whose admission to the hospital was precipitated by delinquent behavior is presented.

Adult↗

PubMed2005

Perception of facial expression and facial identity in subjects with social developmental disorders.

BACKGROUND: It has been hypothesized that the social dysfunction in social developmental disorders (SDDs), such as autism, Asperger disorder, and the socioemotional processing disorder, impairs the acquisition of normal face-processing skills. The authors investigated whether this purported perceptual deficit was generalized to both facial expression and facial identity or whether these different types of facial perception were dissociated in SDDs. METHODS: They studied 26 adults with a variety of SDD diagnoses, assessing their ability to discriminate famous from anonymous faces, their perception of emotional expression from facial and nonfacial cues, and the relationship between these abilities. They also compared the performance of two defined subgroups of subjects with SDDs on expression analysis: one with normal and one with impaired recognition of facial identity. RESULTS: While perception of facial expression was related to the perception of nonfacial expression, the perception of facial identity was not related to either facial or nonfacial expression. Likewise, subjects with SDDs with impaired facial identity processing perceived facial expression as well as those with normal facial identity processing. CONCLUSION: The processing of facial identity and that of facial expression are dissociable in social developmental disorders. Deficits in perceiving facial expression may be related to emotional processing more than face processing. Dissociations between the perception of facial identity and facial emotion are consistent with current cognitive models of face processing. The results argue against hypotheses that the social dysfunction in social developmental disorder causes a generalized failure to acquire face-processing skills.

Adolescent↗

PubMed2000

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.

In this review, we summarize the current genetic information on human developmental disorders found in Online Mendelian Inheritance in Man (OMIM). The OMIM catalogues human phenotypes and genotypes and relevant mouse models. Among the more than 11005 genetic disorders and loci, we found at least 1231 human conditions with known gene mutationsffWe searched for human developmental disorders that present with structural defects during the perinatal period, and identified 162 such entries. We classified these entries by phenotypic features (e.g., skeletal dysplasias, axis and laterality defects, or eye disorders) and by the type of gene mutated (e.g., genes coding for transcription factors, structural proteins, enzymes, or receptors). Thirty-eight entries have allelic variants with gene mutations causing different functional consequences, thereby altering their interactions with modifying genes. Thirty-two entries show genetic heterogeneity due to either functional redundancy of more than one gene or genes that interact in common developmental pathways. Although many different types of genes are mutated in developmental disorders, we found that the disease genes are transcription factors in 49 entries. Mouse models are available for many of the human conditions, with the majority of these mutants being secondary to null mutations. These data allow us to begin to elucidate the complex developmental pathways involved in the molecular pathogenesis of human malformations.

Data Collection↗

PubMed2006

Autistic social impairment in the siblings of children with pervasive developmental disorders.

OBJECTIVE: Sibling recurrence risk in autism has been estimated to be approximately 10%. This study investigated subsyndromal autistic impairments among siblings of probands with pervasive developmental disorders. METHOD: The authors used the Social Responsiveness Scale to obtain quantitative assessments of autistic social impairment in three groups of proband-sibling pairs: 1) autistic children from multiple-incidence families and their closest in age nonautistic brothers (N=49 pairs); 2) children with any pervasive developmental disorder, including autism, and their closest-in-age brothers (N=100 pairs), and 3) children with psychopathology unrelated to autism and their closest-in-age brothers (N=45 pairs). RESULTS: Sibling Social Responsiveness Scale scores were continuously distributed and substantially elevated for both the autistic and pervasive developmental disorder groups. Highest scores (i.e., greatest impairment) were seen among siblings of autistic probands from multiple-incidence families, followed by siblings of probands with any pervasive developmental disorder, then siblings of probands with psychopathology unrelated to autism. CONCLUSIONS: Taken together with previous findings, these results support the notion that genetic susceptibility factors responsible for common, subsyndromal social impairments may be related to the causes of categorically defined pervasive developmental disorders.

Autistic Disorder↗

PubMed2002

Toward an etiological classification of developmental disorders of the kidney and upper urinary tract.

Toward an etiological classification of developmental disorders of the kidney and upper urinary tract. There are a large number of developmental disorders and syndromes that affect the kidney and upper urinary tract. These have generally been classified according to morphological criteria established decades ago. Although these classifications have been useful, they are incomplete, including some developmental disorders while excluding others. Here, basic cellular and molecular biology studies of kidney and upper urinary tract development in both rodents and humans are utilized to suggest the basis of a new etiologic, if still tentative, classification scheme. This classification may help to identify candidate genes for human diseases by correlating morphology with pathogenetic mechanisms.

Animals↗