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PubMed2003

Imitation performance in toddlers with autism and those with other developmental disorders.

BACKGROUND: The present study sought to examine the specificity, developmental correlates, nature and pervasiveness of imitation deficits very early in the development of autism. METHODS: Subjects were 24 children with autism (mean age 34 months), 18 children with fragile X syndrome, 20 children with other developmental disorders, and 15 typically-developing children. Tasks included manual, oral-facial, and object oriented imitations, developmental measures, joint attention ability, and motor abilities. RESULTS: Children with autism were found to be significantly more impaired in overall imitation abilities, oral-facial imitation, and imitations of actions on objects than children in all of the other groups. Imitation skills of young children with fragile X syndrome were strongly influenced by the absence or presence of symptoms of autism. For children with autism, imitation skills were strongly correlated with autistic symptoms and joint attention, even when controlling for developmental level. For comparison groups, imitation was related to other developmental abilities including play, language, and visual spatial skills. Neither motor functioning nor social responsivity accounted for a significant amount of variance in imitation scores, when controlling for overall developmental level, which accounted for much of the variation in imitation ability. CONCLUSIONS: Simple imitation skills were differentially impaired in young children with autism, and lack of social cooperation did not account for their poor performance. In autism, imitation skills clustered with dyadic and triadic social interactions and overall developmental level, but were not related to play or language development. For comparison children, all these areas were inter-related. Hypotheses about a specific dyspraxic deficit underlying the imitation performance in autism were not supported.

Apraxias↗

PubMed1989

Affect comprehension in children with pervasive developmental disorders.

Affect comprehension was studied in children with pervasive developmental disorders (PDD) and normal children matched for mental age. Three matching tasks were used: matching objects (a nonsocial control task), matching faces, and matching affects. The three tasks were developed to be of equal difficulty for normal children. Children were also tested for comprehension and expression of affect terms. The PDD children were impaired on affect matching relative to the normal controls. The PDD children were impaired on face and affect matching relative to their own performance on object matching, whereas the normal children were not. Within the PDD sample, object matching was correlated with mental age measures but not with measures of social behavior and play, but face and affect matching were significantly correlated with mental age as well as social behavior and play. Individual PDD children who showed relative deficits on face or affect matching tended to be more socially impaired than PDD children whose face and affect matching was consonant with their mental age. Results are discussed in terms of possible etiologies of the social deficit in PDD children, and the importance of subtypes within this population.

Adolescent↗

PubMed2004

Larger brains in medication naive high-functioning subjects with pervasive developmental disorder.

BACKGROUND: Are brain volumes of individuals with Pervasive Developmental Disorder (PDD) still enlarged in adolescence and adulthood, and if so, is this enlargement confined to the gray and/or the white matter and is it global or more prominent in specific brain regions. METHODS: Brain MRI scans were made of 21 adolescents with PDD and 21 closely matched controls. RESULTS: All brain volumes, except the white matter, were significantly larger in patients. After correction for brain volume, ventricular volumes remained significantly larger in patients. CONCLUSIONS: Patients showed a proportional, global increase in gray matter and cerebellum volume, and a disproportional increase in ventricular volumes. Thus, at least in high-functioning patients with PDD, brain enlargement may still be present in adult life.

Adult↗

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↗

PubMed2006

A prospective open trial of guanfacine in children with pervasive developmental disorders.

OBJECTIVE: A common complaint for children with pervasive developmental disorder (PDD) is hyperactivity. The purpose of this pilot study was to gather preliminary information on the efficacy of guanfacine in children with PDD and hyperactivity. METHODS: Children with PDD accompanied by hyperactivity entered the open-label trial if there was a recent history of failed treatment with methylphenidate or the child did not improve on methylphenidate in a multisite, placebo-controlled trial. RESULTS: Children (23 boys and 2 girls) with a mean age of 9.03 (+/-3.14) years entered the open-label trial. After 8 weeks of treatment, the parent-rated Hyperactivity subscale of the Aberrant Behavior Checklist (ABC) went from a mean of 31.3 (+/-8.89) at baseline to 18.9 (+/-10.37) (effect size = 1.4; p < 0.001). The teacher-rated Hyperactivity subscale decreased from a mean of 29.9 (+/-9.12) at baseline to 22.3 (+/-9.44) (effect size = 0.83; p < 0.01). Twelve children (48%) were rated as Much Improved or Very Much Improved on the Clinical Global Impressions- Improvement. Doses ranged from 1.0 to 3.0 mg/day in two or three divided doses. Common adverse effects included irritability, sedation, sleep disturbance (insomnia or midsleep awakening), and constipation. Irritability led to discontinuation in 3 subjects. There were no significant changes in pulse, blood pressure, or electrocardiogram. CONCLUSIONS: Guanfacine may be useful for the treatment of hyperactivity in children with PDD. Placebo-controlled studies are needed to guide clinical practice.

Adolescent↗

PubMed2006

The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders.

PURPOSE: A genetics evaluation of children with pervasive developmental disorders (PDDs) identifies a diagnosis in 6% to 15% of cases. However, previous studies have not measured the incidence of genetic disorders among children with autistic-like features who do not necessarily meet the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria for PDD. METHODS: We identified 101 patients at our institution referred for PDD, autism, Asperger syndrome, or autistic features. Seventy-eight were males and 23 were females, giving a male-to-female ratio of 3.4:1. No diagnosis was identified on examination alone, although Rett syndrome was suspected in six females. Seventeen patients did not undergo any type of testing because of noncompliance. RESULTS: Of the remaining 84 patients analyzed, seven (8.3%) were found to have abnormalities on testing. Three chromosomal anomalies were found: one with 5p duplication, one with low-level mosaicism for trisomy 21, and one with an unbalanced 10;22 translocation. Three females were diagnosed with Rett syndrome after MECP2 analysis identified a disease-causing mutation. The remaining patient was found to have an elevated urine orotic acid, with a normal ammonia level, of unknown significance. CONCLUSION: On the basis of our series, the yield of a genetics evaluation in patients with features of PDD who do not necessarily meet the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria is 8.3%. Approximately half of these were the result of a chromosomal abnormality. Three cases of Rett syndrome were identified for which autistic behaviors are a well-described feature. These findings suggest that a high-resolution karyotype provides the greatest diagnostic yield for patients with autistic-like features. MECP2 analysis should be considered for females who present with autistic behaviors.

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↗

PubMed2005

[High functioning pervasive developmental disorder: coexistence with other clinical disorders].

We examined 50 children in high functioning pervasive developmental disorder (HFPDD) to study the comorbidity with other clinical disorders by questionnaires. Seventy-two percentage of them met the criteria for attention deficit hyperactivity disorder (AD/HD). The majority of the children had intelligence quotient less than 90. Learning problems, motor control problems, abnormal responses to sensory stimuli and anxiety disorder frequently coexisted in the children. Since clinical symptoms of HFPDD so diverse, it is possible that some children with HFPDD may be overlooked and diagnosed as having its coexisting disorders.

Adolescent↗

PubMed2026

Mutation timing, accumulation, and selection in the male germline shape inheritance risk for developmental disorders.

De novo mutations (DNMs) in the paternal germline are a major cause of developmental disorders, but how mutation timing, paternal age, and spermatogonial selection jointly shape transmissible risk within individual fathers is unclear. We combined trio whole-genome sequencing from 167 families with deep targeted NanoSeq profiling of sperm from 127 fathers of children with confirmed pathogenic DNMs. Transmitted DNM burden and paternal sperm mutation burden, spectra, and selection landscape were indistinguishable from population reference cohorts. Six fathers carried pathogenic early mosaic variants detectable in sperm at variant allele fractions (VAFs) of 0.7%-14.8%, creating individual recurrence-risk outliers. However, early mosaics accounted for ∼8% of the cohort-aggregated pathogenic burden exome-wide, compared with ∼18% from known positively selected drivers and ∼74% from other rare variants accumulating with paternal age. Thus, paternal de novo disease risk is shaped primarily by universal age-associated mutation and selection, while early mosaicism creates uncommon but clinically important high-risk individuals.

DNMs↗

PubMedDate not supplied

The term comorbidity is of questionable value in reference to developmental disorders: data and theory.

Over the last decade, there has been an enormous increase in the number of studies evaluating the overlap of developmental syndromes or disorders in both children and adults. This overlap of symptoms is often referred to as comorbidity, a term we criticize in this article because of its unsubstantiated presumption of independent etiologies. The premise of this article is that discrete categories do not exist in real life, and that it is misleading to refer to overlapping categories or symptoms as "comorbidities." We illustrate our point by presenting data from 179 school-age children evaluated with rigorous research criteria for seven disorders: reading disability (RD), attention-deficit/hyperactivity disorder (ADHD), developmental coordination disorder (DCD), oppositional defiant disorder (ODD), conduct disorder (CD), depression, and anxiety. Fully 50% of this sample met the criteria for at least two diagnoses. The children with ADHD were at higher risk of having at least a second disorder compared to the children with RD. Overall, the high rates of overlap of these behavioral, emotional, and educational deficits in this broadly ascertained sample support the idea that the concept of comorbidity is inadequate. We discuss the concept of atypical brain development as an explanatory idea to interpret the high rate of overlap of developmental disorders.

Adolescent↗

PubMed2003

Measuring pervasive developmental disorders in children and adolescents with mental retardation: a comparison of two screening instruments used in a study of the total mentally retarded population from a designated area.

The performance of two screening instruments for Pervasive Developmental Disorders was studied in the total population of participants with mental retardation between 4 and 18 years (n = 1059) in Friesland, a northern province of the Netherlands. Parents completed the Autism Behavior Checklist (ABC), staff completed the Scale of Pervasive Developmental Disorder in Mentally Retarded Persons (PDD-MRS). The screening instruments were related to the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule-Generic for 184 participants. The agreement between ABC and PDD-MRS was fair (kappa = .24). The ABC had a better criterion-related validity compared with the Autism Diagnostic Interview-Revised, and the PDD-MRS compared to the Autism Diagnostic Observation Schedule-Generic. However, related to the clinical classification, both instruments performed equally well. Concluding, the ABC and PDD-MRS partially identify the same cases related to external criteria. In addition, each instrument has its own contribution. Both instruments are valuable in detecting children who are at high risk for PDD.

Adolescent↗

PubMed1987

Characteristics of preschool children diagnosed as having an atypical pervasive developmental disorder.

Pediatricians and child psychiatrists encounter preschool children who are not autistic, but who have early deficits in both interpersonal and communication skills. Confusion exists over their diagnosis. Eighteen atypical children currently diagnosed as having an atypical pervasive developmental disorder are described. Areas discussed are social relatedness, speech and language, mental status, cognition, behavior, perception, social background, and medical/neurological status. These children constitute a distinct and frequently seen group within the spectrum of pervasive developmental disorders. Their characteristics are not currently captured within a diagnostic category in the Diagnostic and Statistical Manual, Third Edition (DSM-III), of the American Psychiatric Association. A revision of DSM-III, DSM-III-R, is currently being prepared. These children may not be captured within a diagnostic category in DSM-III-R. The distinguishing characteristics are onset before the age of three, language delay with disordered communication, social relationships characterized by variable relatedness, ritualistic or manneristic behaviors, the likelihood of hyperactivity and/or a short attention span, affective disturbances, excessive anxiety, and a thinking disorder or perseverative behaviors.

Affect↗

PubMed1988

Low-dose neuroleptic therapy for children with childhood-onset pervasive developmental disorder.

An open study of the therapeutic effects of low-dose neuroleptic treatment was performed on 12 consecutively hospitalized children, aged 7-11, who satisfied DSM-III criteria for childhood-onset pervasive developmental disorder. While receiving an average dose of 0.04 mg/kg per day of haloperidol or fluphenazine hydrochloride, the patients exhibited significant reductions in hyperactivity and aggressive symptoms and significant improvement in peer relations. This dose of neuroleptic was associated with minimal side effects. The authors conclude that low doses of potent neuroleptics may be effective treatment for some patients suffering from childhood-onset pervasive developmental disorder.

Behavior Therapy↗

PubMedDate not supplied

Pervasive developmental disorder and parental adaptation: previewing and reviewing atypical development with parents in child psychiatric consultation.

Parenting young children with pervasive developmental disorder engenders unique sustained stresses, which have been termed "burden of care." One specific source of stress for parents is the children's uneven developmental progress, in which delays and accelerations of adaptive functioning may exist side by side. This paper proposes a clinical method that may be incorporated into periodic child psychiatric consultations with parents of young children who have high-functioning autism or Asperger's disorder. Using a semistructured technique, the clinician reviews with the parents the details of the child's recent developmental course and attempts to identify emergent skills that may serve to preview upcoming developmental issues and gains. This method is aimed at enhancing parental abilities to track and anticipate developmental progress and the resultant shifts in the parent-child relationship, in order to reduce one source of sustained parental stress. Case illustrations of children ages 2-8 years old are discussed in light of recent literature on adaptive issues in families of individuals with a chronic medical or psychiatric condition and, specifically, families of children with pervasive developmental disorder.

Adaptation, Psychological↗

PubMed1986

Pervasive developmental disorders and immunological tolerance.

A wide range of studies in man and other species suggest that early compromise of immunological tolerance (both maternal-fetal and self) may lead to severe and varied cognitive deficits. This article briefly reviews what is known of the genesis and maintenance of normal tolerance and current ideas on pathological deviances in tolerance. These ideas are discussed in relation to risk factor, family, twin, biochemical, anatomical, and immunological studies of pervasive developmental disorders (particularly infantile autism). A range of immunological injury hypotheses for the genesis of the pervasive developmental disorders are considered and technical problems in deciding among them are presented.

Autistic Disorder↗

PubMed2000

Landau-Kleffner syndrome with onset at 18 months and an initial diagnosis of pervasive developmental disorder.

We report one of the youngest and most intensively studied cases of Landau-Kleffner syndrome, with a follow-up of 5 years. The boy developed normally until the age of 18 months when he had two attacks, possibly epileptic. Electroencephalogram (EEG) was normal. Over the next 5 months he lost his six to ten words, did not engage with other children and became mute. When he was 34 months old a child-psychiatrist suggested a diagnosis of pervasive developmental disorder or developmental dysphasia. An EEG 3 months later showed abnormalities typical of Landau-Kleffner syndrome. His non-verbal abilities were normal as well as his neurological examination and brain magnetic resonance imaging (MRI). A trial of clobazam and vigabatrin was unsuccessful. When he was 4 years and 9 months old he was treated with corticosteroids and within 3 months his vocabulary increased from the standard for 1 1/2 years of age to that for 2 1/2 years of age. His language abilities continued to improve slowly until a stagnation period at the age of 6 years and 9 months. A second course of corticosteroids improved his comprehension and vocabulary to an almost normal level, and his EEG normalized. A total of 11 EEGs were obtained; all included sleep, but continuous spike and wave during slow sleep was never documented. This report illustrates that Landau-Kleffner syndrome should be considered as an alternative diagnosis in children diagnosed with developmental dysphasia. An EEG including sleep should be considered, and in the presence of abnormalities a trial of anti-epileptic drugs or corticosteroids should be undertaken.

Brain↗

PubMed1996

Case study: risperidone treatment of children and adolescents with developmental disorders.

In a clinical trial, 20 children and adolescents with developmental disorders (age range 8 through 17 years) refractory to previous psychotropic treatments were administered the atypical neuroleptic risperidone (dose range 1.5 to 10 mg/day). In a follow-up period ranging from 8 to 15 months, risperidone demonstrated clinical efficacy in 13 children. Twelve patients were free of side effects and two had minor ones. Three patients had marked weight increase, and galactorrhea developed in two adolescent girls. In this open study, risperidone was associated with clinical improvement. However, controlled studies are needed to determine its relative efficacy and safety in this special population.

Adolescent↗

PubMed1990

Age of symptom onset in young children with pervasive developmental disorders.

Data from 39 young children with autism or other pervasive developmental disorders were examined to determine the relevance of the age of social symptom onset and language symptom onset to other developmental variables. Contrary to the authors' hypotheses, earlier onset of social symptoms was not indicative of a greater severity of autistic symptoms, retardation, or incidence of insecure attachments. Early speech loss was associated with lower IQ, greater social deficits, and poorer language development, while the presence of useful speech at age 2 was related to better functioning in multiple domains. Thus, language functions, rather than the social behaviors examined, carried the greatest predictive power regarding short-term outcomes.

Age Factors↗