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PubMed2000

Long-term risperidone for pervasive developmental disorder: efficacy, tolerability, and discontinuation.

To investigate the safety (e.g., weight gain, liver function, extrapyramidal side effects, and seizures) and efficacy of the long-term use of risperidone in children and adolescents and to ascertain the effects of drug withdrawal in a semi-naturalistic prospective, subjects with autism or pervasive developmental disorders not otherwise specified (PDDNOS) were treated with risperidone for 6 months after which parents were given the option of continuing for a further 6 months (final assessment at 12 months). Behavioral rating included Childhood Autism Rating Scale (CARS), Child Psychiatric Rating Scale (CPRS), Clinical Global Impression (CGI), and Child-Global Assessment Scale (C-GAS). Risperidone significantly ameliorated behavioral symptoms of PDD in 10 out of 11 subjects, with the effects on core symptoms being of smaller amplitude and of slower onset. No loss of effectiveness was observed in patients who continued risperidone for 12 months, while a relapse of associated behavioral symptoms occurred in the others. Weight gain was common, although the rate of increase lessened over a period of time; after drug withdrawal, considerable weight loss was observed in the patient who had previously shown the most significant increase. After 6 months of therapy, two patients developed facial dystonia: this disappeared after reducing dosage in one case, after drug discontinuation in the other. Amenorrhea was also observed, but no changes in liver function, blood tests or EEG were reported. The data indicate that risperidone is an effective and relatively safe drug for long term treatment of behavioral disruption in autistic children and adolescents.

Adolescent↗
PubMed2000

Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.

Epidermal growth factor (EGF) repeat-containing proteins constitute an expanding family of proteins involved in several cellular activities such as blood coagulation, fibrinolysis, cell adhesion, and neural and vertebrate development. By using a bioinformatic approach, we have identified a new member of this family named MAEG (MAM- and EGF-containing gene; HGMW-approved gene symbol and gene name). Sequence analysis indicates that MAEG encodes a secreted protein characterized by the presence of five EGF repeats, three of which display a Ca(2+)-binding consensus sequence. In addition, a MAM domain is also present at the C-terminus of the predicted protein product. The human and murine full-length cDNAs were identified and mapped to human Xp22 and to the mouse syntenic region. Northern analysis indicates that MAEG is expressed early during development. Taken together, these data render MAEG a candidate for human and murine developmental disorders.

Amino Acid Sequence↗
PubMed1998

Validity of the Autism/Pervasive Developmental Disorder subscale of the Diagnostic Assessment for the Severely Handicapped-II.

This study was designed to establish the empirical validity of the Diagnostic Assessment for the Severely Handicapped-II (DASH-II) to screen for the presence of autism in severely and profoundly mentally retarded adults. Participants included 51 individuals residing in a large developmental center in Central Louisiana. The Autism/Pervasive Developmental Disorder subscale of the DASH-II was internally consistent. Additionally, the DASH-II was just as likely as the Childhood Autism Rating Scale (CARS) to classify autistic and control individuals. Specific items on the subscale were examined to identify those items most associated with a diagnosis of autism.

Adolescent↗
PubMed2006

Spot urinary creatinine excretion in pervasive developmental disorders.

BACKGROUND: Excretion of creatinine in urine represents the end-point of endogenous energy transfer from stored adenosine triphosphate in skeletal and cardiac muscle. Measurement of urinary creatinine is commonly used to correct for total urine concentration. Various quantitative measures of compounds suspected to be either pathological to, or indicative of, possible therapeutic interventions for Pervasive Developmental Disorders (PDD) have relied extensively on spot creatinine as a ratio quantity, although this important metabolite has not been exclusively studied within this population. METHODS: Levels of urinary creatinine in spot urine samples were analyzed for a group of children diagnosed with PDD (n=24; median age, 75 months; range, 39-137 months) and a control group (n=50; median age, 109 months; range, 59-140 months). Diagnosis of PDD was confirmed using the Autism Diagnostic Interview-Revised. Samples were collected and analyzed blind for creatinine content using an improved Jaffe's reaction method. RESULTS: Controlling for sample pH and body mass index, a significant decrease in urinary creatinine concentration was found in the PDD group compared to controls using a Mann-Whitney two-tailed ranks test (P=0.001). CONCLUSION: Further studies of protein catabolism and renal function in autism are required to ascertain the relevance of decreased spot urinary creatinine excretion identified in this preliminary study. Issues regarding the use of single urine creatinine measurements and associated confounding variables are discussed in light of the findings, together with recommendations to use other internal or external standards for the quantification of urinary compounds in PDD research.

Age Factors↗
PubMed1978

[Attitude of mothers towards physical punishment as a counseling problem in small children with developmental disorders].

Using the questionnaire that has been specifically developed to obtain data on parental educational behavior, 294 mothers of 2-year-old children were studied and their attitudes towards corporal punishment correlated with characteristics and symptoms of children as well as with psychosocial factors. Low level of education and lack of domestic happiness proved to be essential conditions for acceptance of corporal punishment. Children with developmental disorders are especially endangered only because of their particular liability to disorders, but on account of the fact that they do not receive the same amount of clemency as do children who are liable to infections. Problems of maleducation should receive greater attention in the elimination of environmental dangers to healthy development of children as well as in counseling.

Attitude↗
PubMedDate not supplied

Functional bent of central nervous system: neonatal hyperreactivity and developmental disorders. A 10-year follow-up study.

The relevance of newborn individuality to subsequent course of childhood has long been controversial. This study was designed to find out whether neonatal hyperreactivity influences signs and symptoms that appear in childhood. A reactivity test administered to 1184 healthy term newborns identified two populations: hyperreactives and normoreactives. Ninety-four hyperreactives and 80 normoreactives were followed up periodically to the age of 10 years. Hyperreactives had a significantly higher frequency of developmental disorders. Their parents' histories showed a higher frequency of the same disorders than that of normoreactives' parents. The importance of heredity in the genesis of hyperreactivity implies that hyperreactivity depends on the nervous system.

Child↗
PubMed1989

Gross and histological criteria for developmental disorders in brains of schizophrenics.

Autopsy findings and examination of histological sections from 12 schizophrenic patients and from age-matched, non-schizophrenic controls were enlarged and confirmed our previous study. Four subgroups were differentiated with gross abnormalities, in most cases with asymmetry of the temporal sulcal gyral pattern. Two types of macroscopical deviations are described. Different periods of developmental termination, concerning the sulcal gyral pattern of the temporal lobe, suggest a period in which the disturbance of the development originated which coincides with a probably genetically-induced disturbed migration in the entorhinal region toward the end of the fifth month. It is thought that the parahippocampal or entorhinal area develops differently, space- and time-wise. This may explain why migratory disturbances particularly occur in this precisely limited area. The findings in the ventral insular area are discussed, together with factors which also suggest a developmental disorder.

Adult↗
PubMed2004

Does routine child health surveillance contribute to the early detection of children with pervasive developmental disorders? An epidemiological study in Kent, U.K.

BACKGROUND: Recently changed guidelines for child health surveillance in the United Kingdom (U.K.) suggest targeted checks only, instead of the previously conducted routine or universal screening at 2 years and 3.5 years. There are concerns that these changes could lead to a delay in the detection of children with autism and other pervasive developmental disorders (PDD). Recent U.K. studies have suggested that the prevalence of PDD is much higher than previously estimated. This study establishes to which extent the routine checks contributed to the early detection and assessment of cases of PDD. Simultaneously we have evaluated the process involved and estimate the prevalence of PDD in our district. METHODS: Retrospective study design utilising community medical files. Headteachers of schools (n = 75) within Maidstone district (Kent) were asked to report all children with an established diagnosis of autism or PDD attending year 4 (born '91 and '92 / n = 2536) in October 2000 based on educational records. RESULTS: 59 schools (78.7%) took part in the study. A total of 33 children were reported. 21 fulfilled the inclusion criteria (12 falsely reported). The prevalences were (per 10,000): PDD 82.8 (male to female ratio 6:1), childhood autism 23.7, Asperger's syndrome 11.8 and autistic spectrum disorder 47.3. Co-existing medical conditions were noted in 14.3%; 52.4% were attending mainstream schools. In 63.2% of cases concerns--mainly in the area of speech and language development (SLD)--had been documented at the 2 year check. At the 3.5 year check concerns were noted in 94.1%--the main area was again SLD (76.5%), although behavioural abnormalities were becoming more frequent (47.1%). A total of 13 children (68.4%) were referred for further assessment as a direct result of the checks. CONCLUSIONS: The prevalences for different types of PDD were similar to figures published recently, but much higher than reported a few years ago. Analysis of our data suggests that routine surveillance is a valuable contributing factor for the early detection of PDD and thereby facilitates early intervention. Thus, if routine surveillance ceases, then an alternative method of early detection should be put in place.

Age Factors↗
PubMed2003

What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome.

The uneven cognitive phenotype in the adult outcome of Williams syndrome has led some researchers to make strong claims about the modularity of the brain and the purported genetically determined, innate specification of cognitive modules. Such arguments have particularly been marshaled with respect to language. We challenge this direct generalization from adult phenotypic outcomes to genetic specification and consider instead how genetic disorders provide clues to the constraints on plasticity that shape the outcome of development. We specifically examine behavioral studies, brain imaging, and computational modeling of language in Williams syndrome but contend that our theoretical arguments apply equally to other cognitive domains and other developmental disorders. While acknowledging that selective deficits in normal adult patients might justify claims about cognitive modularity, we question whether similar, seemingly selective deficits found in genetic disorders can be used to argue that such cognitive modules are prespecified in infant brains. Cognitive modules are, in our view, the outcome of development, not its starting point. We note that most work on genetic disorders ignores one vital factor, the actual process of ontogenetic development, and argue that it is vital to view genetic disorders as proceeding under different neurocomputational constraints, not as demonstrations of static modularity.

Cognition Disorders↗
PubMed1994

Parent and teacher agreement in the assessment of pervasive developmental disorders.

Although it is well known that informants often disagree about the degree of psychopathology in children, this issue has not been systematically evaluated in children with autism. The objective of this paper is to estimate the extent of agreement between parents and teachers on the assessment of autistic symptoms and adaptive behavior skills. We assessed 83 children, 4-6 years of age, with a diagnosis of pervasive developmental disorder (PDD), using the Autism Behavior Checklist (ABC) and the Vineland Adaptive Behavior Scales (VABS). Parents and teachers rated each child on each measure. While there was good agreement between informants on the VABS, teachers tended to rate the PDD children higher than parents. In contrast, there was virtually no agreement on the ABC. High levels of stress experienced by parents appeared to be associated with parents reporting more autistic behaviors and less adaptive skills than teachers. As with other child psychiatric disorders, caution must be exercised in combining information from several informants.

Activities of Daily Living↗
PubMed2001

[Cranioplasty for isolated trigonocephaly with developmental disorder].

We reported 50 cases of mild to moderate trigonocephaly (most isolated type) treated by cranioplasty. All of them had clinical symptoms such as severe hyperactivity, speech delay, inability to communicate with others, self-mutilation (head banging), irritability, temper tantrum and mental retardation. Pre-operative CT scan and MRI showed no abnormal findings in the brain except for constricted frontal lobes. The 3 D-CT scan showed the most important diagnostic findings: a ridge of the metopic suture and narrow anterior fossa. TcECD SPECT was performed on 43 patients, and demonstrated in 31 cases some degree of decreased cerebral blood flow (CBF), mainly in the bilateral frontal lobes. Post-operatively, most patients improved to some degrees. The results were compared to those of trigonocephaly patients without cranioplasty. The operated group showed better improvement in the above clinical symptoms, especially, hyperactivity, indifference to others, understanding of verbal communication, self-mutilation, irritability and temper tantrum. The post-operative SPECT represented the increased CBF in 30 out of the 31 cases. MRI and CT scan revealed expanded frontal lobes. Thus, cranioplasty may alleviate the symptoms of patients with mild to moderate trigonocephaly and developmental disorders.

Cerebrovascular Circulation↗
PubMed2001

Homeobox gene mutations and brain-stem developmental disorders: learning from knockout mice.

Analysis of mice that carry targeted inactivations of Hox, Nkx and Phox2 homeobox genes revealed their involvement in regional patterning of brain-stem territories, in specification of neuronal identity, in establishment of appropriate patterns of connectivity and in control of neurotransmission. The specific abnormalities generated by such mutations may provide clues to the genetic basis and cellular mechanisms that are involved in human brain-stem developmental disorders.

Animals↗
PubMed2006

[The use of modern diagnostic and preventive technologies in children with hereditary and congenital intellectual developmental disorders].

The article is dedicated to the problems of intellectual disorders in children suffering from congenital and hereditary diseases, and reflects the issues of the medicosocial significance of neuropsychical impairment in children and the proportion of ethiological factors in the genesis of mental retardation. The authors consider modern diagnostic and preventive technologies that are used in pediatric practice in children with hereditary and congenital intellectual developmental disorders.

Adult↗
PubMed2001

[Development and the developmental disorders of human brain. I. Early development of the cerebrum].

The recent discovery of many genes that regulate brain development is revolutionizing our knowledge of neuroembryology and, moreover, our understanding of how gene defects cause human birth defects. The first 8 weeks of the development of the cerebrum can be subdivided into 23 stages, with early development of mostly the spinal cord and the brain stem. Regionalization of the brain has been related to genes that play a part in it. A characteristic developmental disorder for this early phase in the development of the forebrain is holoprosencephaly, a brain patterning disorder. Numerous genes play a part in its occurrence; abnormal function of signal factors as well as of transcription factors may lead to holoprosencephaly.

Brain↗
PubMed1988

[The classification of pervasive developmental disorders and other disorders: toward the DSM-IV].

Forty years after Kanner's groundbreaking work and many publications later, the outlook for children with autism has not changed markedly. Progress in understanding the etiology, let alone in developing new approaches for treatment, has been extremely slow for this and other serious, early onset disturbances. Historically, disagreements over diagnosis and syndrome definition have impeded research efforts. Indeed, in many cases it is impossible, on reading research reports of even a decade ago, to know exactly what population was being studied. DSM-III has broken new ground in its emphasis on developmental disorders viewed within a multiaxial diagnostic scheme. Increased diagnostic precision should facilitate the application of rigorous bio-behavioral research methods, which, in turn may help increasingly to define homogeneous populations. Refinements of nosology should not be mere academic exercises. Rather, they should suggest hypotheses which are amenable to empirical test. DSM-III, in addition to pointing the way out of the era of psychiatric Babel, has suggested empirical studies which have challenged its assumptions. In the field of nosology, this should be considered a major criterion of success. Changes in nomenclature, while sorely needed, should be undertaken with appropriate skepticism and conservatism and should build upon the foundation provided by DSM-III.

Autistic Disorder↗
PubMed1992

Classification of pervasive developmental disorders: some concepts and practical considerations.

Classifications have to meet a variety of purposes. Clinical and research needs are different and there is much to be said for separate clinical and research schemes. Care is needed to ensure that classifications provide an appropriate medium for teaching about diagnosis and do not cause difficulties when used as a "passport" to resources. Principles of classification are considered in relation to the need to take course, as well as symptomatology, into account, and with respect to the neuropsychiatric interface. The value of a multiaxial approach is noted. The pros and cons of autism and pervasive developmental disorders (PDD) as an overall descriptive term, of lumping or splitting, and of different choices with respect to PDD subcategories are discussed.

Autistic Disorder↗
PubMed1994

Cohesive discourse in pervasive developmental disorders.

Investigated the use of cohesive links to create a reciprocal conversation in individuals with autism, Asperger syndrome, and a control group of children and adolescents with nonspecific social problems. All subjects engaged in a 10-minute conversation with an examiner that touched on various topics. The conversation was audiotaped, transcribed, and coded blindly for several types of cohesive links. Compared to controls, the higher functioning autistic group referred less to a previous stretch of the conversation and more to an aspect of the physical environment. The Asperger group, on the other hand, was very similar to the controls except they made more unclear references that were difficult to interpret. Implications of these findings for understanding the communicative failure of subjects with pervasive developmental disorder are discussed.

Adolescent↗
PubMed1984

Paucity of secondary synaptic clefts in a case of congenital myasthenia with multiple contractures: ultrastructural morphology of a developmental disorder.

A new form of congenital myasthenia is described. An infant whose foetal movements during pregnancy had been weak presented at birth with muscle weakness and multiple contractures of the lower limbs. The clinical course was characterised by myasthenic crises during febrile illnesses. Neurophysiological studies demonstrated a decremental response at 2-3 HZ stimulation; this effect was reversed by edrophonium iv. At the age of eight months, a biopsy from the soleus muscle showed a predominance of type I fibres and variation in fibre diameters was slightly increased. Ultrastructural studies of the motor endplates revealed a marked reduction of post-synaptic membrane lengths with paucity of secondary clefts. Signs of focal degeneration were absent. The picture was reminiscent of foetal neuromuscular junctions. A developmental disorder of the postsynaptic membrane was considered to be the basic cause of the neuromuscular transmission defect.

Axons↗