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PubMed2000

The classification of autism, Asperger's syndrome, and pervasive developmental disorder.

OBJECTIVE: The current classification of the pervasive developmental disorders (PDDs) as conceptualized in both the DSM-IV and ICD-10 is deeply unsatisfying to many parents, front-line clinicians, and academic researchers. Is the diagnostic validity of the various disorders simply lacking empirical data for full substantiation, or does the overall conceptualization of the category have more fundamental problems, not reflecting the "true" nature of the phenomena? This paper argues the latter hypothesis. I review the historical development of the classification of PDD, summarize recent empirical data on issues of reliability and validity, and suggest a new approach to classification and understanding.

Adolescent↗

PubMed1988

Fragile X syndrome: genetic predisposition to psychopathology.

Fragile X syndrome is a newly recognized X-linked disorder which has been associated with a high prevalence of psychiatric disturbance, particularly attention deficit disorder and autism. The present study involved the neuropsychiatric evaluation of 14 males with the disorder who were between the ages of 3 to 27 years. Pervasive hyperactivity, impulsivity, and attentional deficits were found among all of the subjects, while a significant degree of anxiety was manifested by more than half. Although the majority of subjects exhibited poor eye contact, atypical speech and language functioning, and stereotyped behavior, only one met DSM-III diagnostic criteria for a persistent pervasive developmental disorder. Gaze aversion, noted among half of the subjects, was attributed to underlying anxiety rather than to autistic social dysfunction because of the otherwise socially engaged and affectionate behavior exhibited by the subjects. Failure to make this distinction in the context of cognitive and linguistic impairments associated with fragile X syndrome may account for the high rates of autism reported by other investigators.

Adolescent↗

PubMed2001

The Modified Checklist for Autism in Toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders.

Autism, a severe disorder of development, is difficult to detect in very young children. However, children who receive early intervention have improved long-term prognoses. The Modified Checklist for Autism in Toddlers (M-CHAT), consisting of 23 yes/no items, was used to screen 1,293 children. Of the 58 children given a diagnostic/developmental evaluation, 39 were diagnosed with a disorder on the autism spectrum. Six items pertaining to social relatedness and communication were found to have the best discriminability between children diagnosed with and without autism/PDD. Cutoff scores were created for the best items and the total checklist. Results indicate that the M-CHAT is a promising instrument for the early detection of autism.

Autistic Disorder↗

PubMed1986

Current concepts: infantile autism and the pervasive developmental disorders.

The pervasive developmental disorders (PDD), as exemplified by infantile autism, are a group of severe childhood neuropsychiatric disorders of early onset in which multiple areas of social, communicative, and cognitive development are disturbed. Although these disorders often are associated with some degree of mental retardation and various medical and neurological abnormalities, they are distinctive in their course and outcome, and in the patterns of development deficit. These conditions, which are expressed as the final behavioral syndrome, probably have many different causes. Whereas organic factors clearly are implicated, no precise etiological mechanisms have been established. Management of these disorders includes appropriate educational and behavioral intervention. Efforts are needed to define these disorders more precisely, and to identify relevant subgroups, to further studies of pathophysiology.

Autistic Disorder↗

PubMed1989

An effective day treatment model for young children with pervasive developmental disorders.

A day treatment program was provided for 31 children (ages 2 through 6) with DSM-III diagnoses of infantile autism or pervasive developmental disorder. The main intervention strategies were use of positively charged affective experiences to aid the development of close interpersonal relationships, use of play in all its interpersonal, cognitive, and structural variety, and a pragmatics-based language therapy model delivered within a highly predictable and carefully structured milieu. Over a 6-month intervention period, subjects demonstrated significant treatment effects in cognition, perceptual/fine motor, social/emotional, and language skills, which were maintained or increased over a 12- to 18-month treatment period. Play skills increased significantly in symbolic complexity, symbolic agency, and symbolic substitutions. Additionally, there was significant reduction of autistic symptomology.

Affect↗

PubMed2005

Brief report: pervasive developmental disorder can evolve into ADHD: case illustrations.

Despite prominent attentional symptoms in Pervasive Developmental Disorders (PDD) the relationship between PDD and Attention Deficit Hyperactivity Disorder (ADHD) has received little direct examination. In addition, outcome studies of children with PDD often focus on language, educational placement, or adaptive skills, but seldom on loss of the PDD diagnosis or change to another clinical syndrome. We present three cases in detail, and tabular data on eight more, that illustrate a clinical presentation in which prototypical cases of PDD evolve into clear-cut cases of ADHD from early to middle childhood.

Attention Deficit Disorder with Hyperactivity↗

PubMed1993

Theoretical aspects of the study of benzodiazepine receptors in infantile autism.

This paper is part of a special section on 'psychopharmacotherapy in children' and focuses on benzodiazepine receptors in autism. Infantile autism in an early and pervasive developmental disorder described by Kanner in 1943. Anatomical, pathological and magnetic resonance imaging studies have indicated changes in the cerebellum and hippocampus of autistic subjects. Given the numerical importance and diffuse benzodiazepine receptors, their study by functional brain imaging methods in vivo could be value in cases of infantile autism as a gauge of neuronal potentiality. The main data concerning benzodiazepine complex are presented. The relations between these data and the neurophysiological hypotheses of autism are discussed.

Adolescent↗

PubMed2006

Poor facial affect recognition among boys with duchenne muscular dystrophy.

Children with Duchenne or Becker muscular dystrophy (MD) have delayed language and poor social skills and some meet criteria for Pervasive Developmental Disorder, yet they are identified by molecular, rather than behavioral, characteristics. To determine whether comprehension of facial affect is compromised in boys with MD, children were given a matching-to-sample test with four types of visual recognition (Object, Face, Affect, and Situation matching) developed by Lucci and Fein. Within-group analyses on 50 boys with MD found decreased Affect matching relative to the other matching conditions. Between-group comparisons on 20 sibling pairs found the boys with Duchenne performed more poorly only on the Affect-matching condition. Thus, mildly impaired facial affect recognition may be part of the phenotype associated with Duchenne or Becker MD.

Affect↗

PubMed1999

Epilepsy surgery in children with pervasive developmental disorder.

Pervasive developmental disorder (PDD) is occasionally associated with medically intractable complex partial seizures. The outcome of PDD was explored in three males and two females who underwent epilepsy surgery at 32 months to 8 years of age (mean = 4 years) after onset of epilepsy at 1 week to 21 months of age (mean = 11 months). Four children had temporal lobe resections (three right, one left; two for focal cortical dysplasia, and two for tumors), and one had a right temporoparieto-occipital resection (for focal cortical dysplasia). Each child underwent repeated evaluations by a pediatric neuropsychologist and psychiatrist. Fourteen to 47 months (mean = 23 months) after operation, one child with persistent seizures had moderate developmental and behavioral improvement, three children (two seizure free, one with rare staring spells) had mild developmental and behavioral improvement, and the remaining child (seizure free) experienced a worsening of her PDD. The four children with mild-to-moderate improvement in postoperative cognitive and behavioral development still demonstrated persistent delay. Cognitive gains were confirmed by neuropsychologic testing in the oldest patient but were not reflected in test results from the three younger children, who had more modest improvement. The child with worsening of her PDD had cognitive and emotional deterioration to babbling, echolalia, aggressiveness, decreased social interaction, and increased mouthing of objects beginning several months postoperatively. These results suggest that families should be counseled that PDD symptoms in children with focal epileptogenic lesions may or may not improve after epilepsy surgery, even if the surgery is successful with respect to seizure control.

Child↗

PubMed2004

Rett syndrome: a prototypical neurodevelopmental disorder.

Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. Genotype/phenotype analysis revealed that the phenotypic spectrum of MECP2 mutations in humans is broader than initially suspected: Mutations have been discovered in Rett syndrome variants, mentally retarded males, and autistic children. A variety of in vivo and in vitro models has been developed that allow analysis of MeCP2 function and pathogenic studies of Rett syndrome. Because the neuropathology of Rett syndrome shares certain features with other neurodevelopmental disorders, a common pathogenic process may underlie these disorders. Thus, Rett syndrome is a prototype for the genetic, molecular, and neurobiological analysis of neurodevelopmental disorders.

Animals↗

PubMed1993

Sex differences in pervasive developmental disorders.

Assessed differences in sex ratio, severity of associated mental retardation, and various metrics of severity of autism in autistic, PDD-NOS, and developmentally disordered (non-PDD) cases. Males with autism were more frequent than females, particular at higher IQ levels. The three clinical groups differed, in expected ways, in the various measures of severity of autism with the PDD-NOS cases being intermediate between the strictly diagnosed autistic group and the non-PDD developmental disordered group. Sex differences were primarily confined to IQ; sex differences in other metrics of severity of autism were not prominent. Implications for future research are discussed.

Adolescent↗

PubMed1988

Markers for improvement in children with pervasive developmental disorders.

In a series of prevalence and follow-up studies on North Dakota's 59 children with pervasive developmental disorders, the patient characteristics of hyperlexia, Tourette disorder (TD), and the absence of seizures were found to be associated with improved outcome or higher IQ. We entered these and 17 other characteristics into a regression model using forward, step-wise inclusion to identify the smallest set of predictor variables which were significantly associated with the dependent variables of IQ, and receptive and expressive language. Of the 20 predictor variables used in the regression analysis, the same four variables met inclusion criteria for each of the dependent variables. These predictor variables were: hyperlexia, a known aetiology, TD and age. The relevance of these findings is discussed.

Child Development Disorders, Pervasive↗

PubMed1990

Children with self-injurious behavior.

Self-injurious behavior is a serious problem that is not uncommon among individuals with mental retardation. Medical and developmental characteristics of 97 children, adolescents, and young adults (age range 11 months to 21 years, 11 months) assessed and treated for self-injurious behavior in a specialized, interdisciplinary inpatient unit between 1980 and 1988 were reviewed. This population differed from those reported in previous studies in that it was of school age and predominantly community based. Severe or profound mental retardation was present in 82.5% of our patients. The causative diagnoses associated with self-injurious behavior were similar to those of severe mental retardation alone. Associated disabilities represented at greater than expected frequencies included pervasive developmental disorders, visual impairment, and a history of infantile spasms. Most patients (81.4%) engaged in more than one type of self-injurious behavior. The most common topographies were head banging, biting, head hitting, body hitting, and scratching. Physical injury was documented in 77% of cases; the injuries most frequently reported were excoriations, scars/callus formation, hematomas, and local infection. As community placement of handicapped individuals continues to increase, pediatricians will be called upon to monitor patients who engage in self-injurious behavior.

Adolescent↗

PubMed2000

Repetitive thoughts and behavior in pervasive developmental disorders: treatment with serotonin reuptake inhibitors.

Repetitive thoughts and behavior are considered integral and core components of autistic disorder. Results from recent studies suggest that the types of repetitive thoughts and behavior of adults with autism and those with obsessive-compulsive disorder (OCD) may be different. Serotonin reuptake inhibitors (SRIs), the primary drug treatment for patients with OCD, may reduce the repetitive phenomena of some autistic patients. Two controlled studies of the nonselective SRI clomipramine have shown the drug to be more efficacious than the relatively selective norepinephrine reuptake inhibitor desipramine and placebo in children with autism. One controlled study of the selective SRI fluvoxamine found it to be significantly better than placebo for reducing repetitive phenomena and aggression in adults with autistic disorder. Additional research is needed.

Adolescent↗

PubMed2004

Adaptive behavior in autism and Pervasive Developmental Disorder-Not Otherwise Specified: microanalysis of scores on the Vineland Adaptive Behavior Scales.

The purpose of this study is to provide a microanalysis of differences in adaptive functioning seen between well-matched groups of school-aged children with autism and those diagnosed as having Pervasive Developmental Disorder-Not Otherwise Specified, all of whom functioned in the mild to moderate range of intellectual impairment. Findings indicate that the major area of difference between children with autism and those with Pervasive Developmental Disorder-Not Otherwise Specified, was expressive communication; specifically, the use of elaborations in syntax and morphology and in pragmatic use of language to convey and to seek information in discourse. Linear discriminant function analysis revealed that scores on just three of these expressive communication item sets correctly identified subjects in the two diagnostic categories with 80% overall accuracy. Implications of these findings for both diagnosis and intervention with children with Autism Spectrum Disorders will be discussed.

Activities of Daily Living↗

PubMed1993

The pervasive developmental disorder spectrum: a case illustration.

Children diagnosed with a pervasive developmental disorder experience difficulties along a spectrum of severity. Impairments in socialization, communication, and the ability to appropriately express and interpret affect in relationships are common features of the disorder. After summarizing salient thinking in the field, the author describes a case emphasizing the individual psychotherapy process in which the patient was involved. Although individual psychotherapy with such patients is currently viewed with skepticism, the one-on-one relationship may be a central feature of such treatment because it can serve as a model for other relationships. The author advocates a multimodal treatment plan appropriately geared to the needs of such patients.

Adolescent↗

PubMed2000

Pharmacological treatment of mood disturbances, aggression, and self-injury in persons with pervasive developmental disorders.

Aggression, self-injury, and mood disturbances in persons with autistic disorders, while not uncommon, do not constitute core features of autism. Moreover, these problems can occur for a variety of reasons, which need to be assessed in order to plan appropriate and frequently combined (behavioral-pharmacological) treatments. Drugs acting primarily in the dopaminergic, serotonergic, adrenergic, opioidergic, and glutamatergic systems all have been explored in the treatment of aggression and self-injury. While no single drug or class of medication has yet emerged as consistently effective, a number of drugs appear promising. Advances in the assessment of aggressive behaviors, the identification of predictors of drug response, and additional controlled clinical drug trials specifically aimed at these target behaviors are essential in improving the approach to these problematic behaviors in the context of autistic disorder.

Aggression↗

PubMed2000

Comorbidity and subgroups in childhood autism.

The objective of this study was to identify clinical subgroups in children with childhood autism and to examine comorbidity in each subgroup. The study was based on medical records of 30 inpatients referred to a specialist ward for children with pervasive developmental disorders. Eighteen consecutive patients with an IQ above 50 and fulfilling research criteria for childhood autism were grouped in accordance with the Wing's social subgroups of autism (aloof, passive, and active but odd). Comorbidity, in terms of deficits in attention, motor control, visuo-motor and visuo-spatial function, as well as epilepsy, was described in each of the three groups. The aloof and passive groups produced a pure autistic triad of deficits, while the active but odd group was characterized by strong comorbidity.

Attention Deficit Disorder with Hyperactivity↗