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Predictors and correlates of adaptive functioning in children with developmental disorders.

Autism is a developmental disorder marked by impairments in socialization, communication, and perseverative behavior and is associated with cognitive impairment and deficits in adaptive functioning. Research has consistently demonstrated that children with autism have deficits in adaptive functioning more severe than their cognitive deficits. This study investigates the correlates and predictors of adaptive functioning as measured by the Vineland Adaptive Behavior Scales in high- and low-functioning children with autism and their age and nonverbal IQ matched controls. Thirty-five 9-year-old children with high-functioning autism (HAD) were compared with 31 age-matched children with developmental language disorder (DLD), and 40 9-year-old children with low-functioning autism (LAD) were compared with 17 age-matched children with low IQ on adaptive functioning, IQ, autistic symptomology, and tests of language and verbal memory. Results indicate that both groups with autism were significantly impaired compared to their matched controls on Socialization and Daily Living, but not Communication and that these impairments were more pronounced in the HAD group than in the LAD group. Adaptive behavior was strongly correlated with autistic symptomology only in the HAD group. Regression analyses indicated that IQ was strongly predictive of adaptive behavior in both low-functioning groups, but tests of language and verbal memory predicted adaptive behavior in the higher functioning groups. Results suggest that IQ may act as a limiting factor for lower functioning children but higher functioning children are impaired by specific deficits, including autistic symptomology and impaired language and verbal memory.

Adaptation, Psychological↗

Sign language and motor functioning in students with autistic disorder.

Sign language production of 14 low-functioning students diagnosed with autistic disorder was examined. Videotapes of the students signing with their teachers were analyzed for frequency and accuracy of sign location, handshape, and movement production. The location aspect of signs was produced more accurately by the subjects than either the handshape or movement aspects. Wide individual differences were evident among the students in the number of signs they produced, accuracy of sign formation, and performance on measures of motor functioning. Students' sign vocabulary size and accuracy of sign formation were highly correlated with their performance on two measures of apraxia and with their fine motor age scores.

Adolescent↗

Structural analysis of disease-causing mutations in the P-subfamily of forkhead transcription factors.

Mutations in a number of forkhead transcription factors are associated with the development of inherited diseases in humans. Two closely related genes, FOXP2 and FOXP3, are implicated in two completely different human disorders. A point mutation in the forkhead domain of FOXP2 (R553H) is responsible for a severe speech and language disorder, while a series of missense mutations distributed over the forkhead domain of FOXP3 cause a fatal disorder called IPEX, characterized by immune dysregulation, polyendocrinopathy, and enteropathy. Homology model building techniques were used to generate atomic structures of FOXP2 and FOXP3, using the solution structures of the forkhead domain of the adipocyte-transcription factor FREAC-11 and AFX as templates. The impact of these disease-causing missense mutations on the three-dimensional structure, stability, and surface electrostatic charge distribution of the forkhead domains is examined here. The missense mutations R553H in FOXP2 and R397W in FOXP3 dramatically alter the electrostatic potentials of the molecular surface of their respective forkhead domains.

Amino Acid Sequence↗

Generalizability Theory I: Assessing reliability of observational data in the communication sciences.

Perceptual rating scales can be valid, reliable, and convenient tools for evaluating speech outcomes in research and clinical practice. However, they depend on the perceptions of observers. Too few raters may compromise accuracy, whereas too many would be inefficient. There is therefore a need to determine the minimum number of raters required for a reliable result. In this context, the ideas of Generalizability Theory have become increasingly popular in the behavioral sciences; suggestions have been made for their application to the assessment of speech-language disorders. Here we review the concepts involved, which are applied in a companion article dealing with speech naturalness data obtained from clients who recently completed treatment for their stuttering. We pay particular attention to the statistical requirements of the theory, including some cautions about possible inappropriate use of these techniques. We also offer a new interpretation of the results of the analysis that aims to be more meaningful to most speech-language pathologists.

Analysis of Variance↗

Clinical subtypes of dementia of the Alzheimer type.

Clinical subtypes of dementia of the Alzheimer type were evaluated by comparing age at onset, aphasia, family history, and motor disorder in 146 individuals with progressive dementia. Early onset was significantly associated with more prevalent and more severe language disorder. Forty-five percent of all probands had familial history of dementia, but we could not differentiate relative familial risk based on age at onset or aphasia. Independent of duration of illness, myoclonus and noniatrogenic extrapyramidal disorder were associated with greater severity of dementia.

Aged↗

A family with a grand-maternally derived interstitial duplication of proximal 15q.

About 1% of individuals with autism or types of pervasive developmental disorder have a duplication of the 15q11-q13 region. These abnormalities can be detected by routine G-banded chromosome study, showing an extra marker chromosome, or demonstrated by fluorescence in situ hybridization (FISH) analysis, revealing an interstitial duplication. We report here the molecular, cytogenetic, clinical and neuropsychiatric evaluations of a family in whom 3 of 4 siblings inherited an interstitial duplication of 15q11-q13. This duplication was inherited from their mother who also had a maternally derived duplication. Affected family members had apraxia of speech, phonological awareness deficits, developmental language disorder, dyslexia, as well as limb apraxia but did not have any dysmorphic clinical features. The observations in this family suggest that the phenotypic manifestations of proximal 15q duplications may also involve language-based learning disabilities.

Adult↗

Slowly progressive aphasia in three patients. The problem of accompanying neuropsychological deficit.

Three patients are described presenting with a slowly progressive aphasic disorder associated with degenerative cortical disease. The symptoms began in the presenium and the length of illness was 4 to 5 years. The language disorder corresponded in all patients to a severe form of amnesic aphasia but a moderate to marked semantic breakdown was also found. Formal language examination was complemented by extensive neuropsychological testing. This revealed a severe deficit in language-dependent cognitive tasks. The patients were given a follow-up language and neuropsychological examination. In addition to the deterioration of language functions, a significant decline was observed in nonverbal intelligence tasks even though their level of performance still remained within the normal range. Follow-up with standardized intelligence tests might detect a trend towards generalized dementia in similar cases. This would mean that these patients should be considered as presenting with slowly progressive aphasia preceding generalized dementia.

Aphasia↗

Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.

We analyzed the FOXP2 gene, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, for a possible causative mutation in autism. FOXP2 was reported to be mutated in patients with a severe speech and language disorder. FOXP2 was located on chromosome 7q31, which is one of the loci involved in autism. Autism and specific language impairment share some of their clinical phenotypes. In addition, FOXP2 was expressed abundantly in the brain. We screened all of the exons of FOXP2 for causative mutations in 53 Japanese autistic patients using denaturing high-performance liquid chromatography and direct sequencing. A delCAA in exon 5 causing one glutamine deletion in the first polyglutamine tract was detected in four patients and in 2 of 50 control individuals. The frequency of the TT allele with the G to T base change in intron 15 was significantly high in the autistic population. The other base changes included one silent base change (A569G) in exon 5 and three in introns. Our results may suggest a relationship between autism and the FOXP2 gene or a gene located nearby.

Adolescent↗

In the long run...longitudinal studies of psychopathology in children. Committee on Child Psychology. Group for the Advancement of Psychiatry. Report no.143.

Longitudinal studies are difficult to do well. Too short a study and the results may be meaningless. Too long a study and the subjects cannot be found, money runs out, and research methods become seriously out of date. Despite these problems, there have been some longitudinal studies done that have greatly advanced our understanding of the nature and the treatment of psychopathology in childhood. Without these studies, much less would be known about the clinical course of important disorders, the effects of treatments, and the various risk and protective factors. None of these studies has been perfect. Some longitudinal studies did not focus on quite the right questions, some produced contradictory results, and others produced results that were hard to interpret. What have we learned from the longitudinal studies reviewed in this Group for the Advancement of Psychiatry (GAP) report? Many of the things that we have learned have been surprising--even counterintuitive. Pre- and perinatal insults need not necessarily lead to serious consequences in later life. Premature infants, if raised in nondeprived settings, are not likely to be mentally retarded or learning disabled. Today, of course, premature infants who would not have been kept alive 15 years ago are surviving. Will this advancement led to an untoward outcome? We do not know. New longitudinal studies need to be done. Certain serious illnesses emerging later in childhood may be associated with a greater risk of psychopathology. This risk is true at least for those with asthma. Psychological factors, such as psychological stress, also may lead to exacerbation of asthmatic attacks. Whether other illnesses are associated with a greater risk of psychopathology simply has not been studied adequately. Infant temperamental characteristics can be classified and measured; however, they appear to predict little in terms of later personality development or psychopathology. Although temperamental characteristics measured in infancy correlate poorly with temperamental characteristics measured at age 4 or 5 years, they appear to be much more stable and correlate well with temperament at ages 8 and 12 years. Some of these temperamental characteristics, particularly aggressivity and negativity at age 5 years, are serious risk factors for behavioral psychopathology at age 8 or 12 years and, possibly, at later ages as well. Aggressive, negative 5-year-olds do not necessarily grow out of their problems. Their problems are important and should be dealt with when children are age 5 years. What does appear important is early language development. Delays in language development or developmental language disorders are risk factors for later psychopathology. Fifty percent of school-age children with language problems requiring speech and language therapy also have diagnosable psychopathology. Hyperactivity and short attention span are characteristics that tend to persist in later childhood--even adulthood. Alone, each of these characteristics may not be a risk factor for later psychopathology, but, when accompanied by oppositional behavior and conduct disorder, the outcome is detrimental to the child. Many studies have shown that children with these comorbid problems are at risk later for becoming delinquent and antisocial. Conduct disorder in childhood, which is much more common in males, is a risk factor for later delinquency, even if it is not associated with hyperactivity. Again, early intervention is important. The effects of comorbidity in this instance can be serious. Comorbidity in general, especially as children grow older, leads to adverse social, academic, and psychopathological outcomes. Depression does occur in children, in all of its adult manifestations. Mania, in contrast, is rarely seen in children younger than age 12 years. Depression in school-age children can be severe or mild. In contrast to adolescents with depression, depressed children are most likely to have somatic compla

Adolescent↗

Specificity of specific language impairment.

In children with specific language impairment (SLI) their problems are supposed to be specifically restricted to language. However, both on theoretical basis as well as on a practical basis it is often difficult to make a sharp distinction between specific and non-specific language disorders. In a three-step study we found in the first place that in a group of children with supposed SLI (n = 319), after multidisciplinary examination, only in 25% of the cases the diagnosis SLI was correct. Secondly we found that after a period of time children with correctly diagnosed SLI showed problems with attention, motor functioning and school achievement. Thirdly we found that the learning difficulties of the children were related to their previous language problems. We hypothesize that SLI is less specific than is generally assumed. It could be a part of a neuropsychological 'syndrome' in which neurological maturation is jeopardized.

Attention Deficit Disorder with Hyperactivity↗

Development of perceptual correlates of reading performance.

Performance on perceptual tasks requiring the discrimination of brief, temporally proximate or temporally varying sensory stimuli (temporal processing tasks) is impaired in some individuals with developmental language disorder and/or dyslexia. Little is known about how these temporal processes in perception develop and how they relate to language and reading performance in the normal population. The present study examined performance on 8 temporal processing tasks and 5 language/reading tasks in 120 unselected readers who varied in age over a range in which reading and phonological awareness were developing. Performance on all temporal processing tasks except coherent motion detection improved over ages 7 years to adulthood (p<0.01), especially between ages 7 and 13 years. Independent of these age effects, performance on all 8 temporal processing tasks predicted phonological awareness and reading performance (p<0.05), and three auditory temporal processing tasks predicted receptive language function (p<0.05). Furthermore, all temporal processing measures except within-channel gap detection and coherent motion detection predicted unique variance in phonological scores within subjects, whereas only within-channel gap detection performance explained unique variance in orthographic reading performance. These findings partially support the (Farmer, M.E., Klein, R.M., 1995. The evidence for a temporal processing deficit linked to dyslexia: A review. Psychon. Bull. Rev. 2, 460-493) notion of there being separable auditory and visual perceptual contributions to phonological and orthographic reading development. The data also are compatible with the view that the umbrella term "temporal processing" encompasses fundamentally different sensory or cognitive processes that may contribute differentially to language and reading performance, which may have different developmental trajectories and be differentially susceptible to pathology.

Adolescent↗

The treatment of anomia resulting from output lexical damage: analysis of two cases.

This study describes a treatment project, carried out with two anomic subjects, RBO and GMA failed to name pictures correctly as a consequence of damage to phonological lexical forms; their ability to process word meaning was unimpaired. Words that were consistently comprehended correctly, but produced incorrectly by each subject, were identified. Some words were treated, whereas some served as the control set. A significant improvement was observed in both subjects. As predicted by the model of lexical-semantic processing used as the theoretical background for the study, improvement was restricted to treated items and did not generalize to untreated words, not even to words that were semantically related to those administered during treatment. Improvement was long-lasting, as shown by the fact that 17 months post-therapy GMA's performance on treated words was still significantly better than before treatment. These results are discussed in relation to the claim that cognitive models can be profitably used in the treatment of language disorders.

Adult↗

The use of a pragmatic protocol with normal preschool children.

The purpose of the present study was to examine the use of language functions in a structured setting in normal preschool children. Subjects were 240 males and females between the ages of two and five years. Results indicated statistically significant differences in the appropriateness of responses among several different age groups. The results are discussed relative to the assessment of the preschool child with a possible language disorder.

Child, Preschool↗

Cases of exceptional language in mental retardation and Down syndrome: explanatory perspectives.

Recent studies of exceptional language development and functioning in mentally retarded people raise questions regarding basic issues in language disorders. These studies are summarised and their implications discussed. Possible reasons for the existence of such cases are examined including language training, general cognitive functioning, working memory, cerebral dominance, and deep-seated variation at brain level.

Cognition↗

Influence of rehabilitation on language skills in aphasic patients. A controlled study.

The influence of language rehabilitation on specific language skills (speaking, understanding, writing, and reading) was investigated in 281 aphasic patients (162 reeducated and 119 controls) who were subjected to a second examination no less than six months after the first. The relationship of the following factors to improvement was studied: (a) time between onset of aphasia and first examination; (b) type of aphasia; (c) overall severity of aphasia on first examination; (d) presence or absence of rehabilitation between first and subsequent examination. It was found that rehabilitation has a significant positive effect on improvement in all language skills. Time between onset and first examination and overall severity of aphasia were negatively related to improvement. The relationship of type of asphasia to improvement was not significant. Additional evidence of the efficacy of rehabilitation is provided by experience with patients who began language therapy several months or years after the onset of their language disorder.

Adolescent↗

Imaging speech production using fMRI.

Human speech is a well-learned, sensorimotor, and ecological behavior ideal for the study of neural processes and brain-behavior relations. With the advent of modern neuroimaging techniques such as positron emission tomography (PET) and functional magnetic resonance imaging (fMRI), the potential for investigating neural mechanisms of speech motor control, speech motor disorders, and speech motor development has increased. However, a practical issue has limited the application of fMRI to issues in spoken language production and other related behaviors (singing, swallowing). Producing these behaviors during volume acquisition introduces motion-induced signal changes that confound the activation signals of interest. A number of approaches, ranging from signal processing to using silent or covert speech, have attempted to remove or prevent the effects of motion-induced artefact. However, these approaches are flawed for a variety of reasons. An alternative approach, that has only recently been applied to study single-word production, uses pauses in volume acquisition during the production of natural speech motion. Here we present some representative data illustrating the problems associated with motion artefacts and some qualitative results acquired from subjects producing short sentences and orofacial nonspeech movements in the scanner. Using pauses or silent intervals in volume acquisition and block designs, results from individual subjects result in robust activation without motion-induced signal artefact. This approach is an efficient method for studying the neural basis of spoken language production and the effects of speech and language disorders using fMRI.

Adult↗