The influence of language on the development of quantitative, spatial and social thinking in deaf children.
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The ability to understand references to the absent enables conversation to move beyond the here-and-now to matters distant in both space and time. Such understanding requires appreciating the relation between language and communicative intent: one must recognize speakers' intentions to use language to converge on a shared conversational focus that is at least somewhat independent of the current context. Despite its centrality to language development, the emergence of absent reference understanding has received little systematic attention. The present research investigated the responses of 60 infants aged 1;0 to 2 ; 6 to a researcher talking about both present and absent caregivers. When infants aged 1 ; 3 and older heard talk about absent caregivers they displayed a complex of nonverbal communicative responses that were divergent from their responses to talk about a present person. Infants aged 2 ; 0 and older provided responses indicating understanding of absent reference. The findings suggest that by 1 ; 3 infants may have at least a tacit appreciation of language as a device for coordinating conversational focus, and hint at increased sophistication in infants' absent reference comprehension skills at 2 ; 0.
Although mental retardation associated with congenital hypothyroidism (CH) is prevented by newborn screening and early treatment, affected children still undergo a brief period of thyroid hormone deficiency reflecting etiology of thyroid disease, illness severity, and treatment factors. Because thyroid hormone is essential for normal brain development and because some processes require thyroid hormone in the period when thyroid hormone was lacking, children with CH treated early may still have subtle neurocognitive deficits. As the period when thyroid hormone is needed differs for different brain regions, there may be different types of deficits depending on when thyroid hormone levels were insufficient. Since 1980, we have been following a large cohort of Toronto-based children with congenital hypothyroidism identified by newborn screening from infancy to adolescence. Early findings revealed a 5-10-point decline in IQ, poorer visuomotor and visuospatial abilities, delayed speech and language development, selective neuromotor deficiencies, and poorer attention and memory skills, which were correlated with different disease and treatment factors. Now a comparison between 48 subjects at adolescence and matched controls indicates that deficits persist in visuospatial, memory, and attention domains and these are correlated with severity of early hypothyroidism. Negative relationships between attention indices and thyroxine (T4) elevations at time of testing also suggest a role for thyroid hormone in the regulation of attention.
Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.
OBJECTIVE: Neonatal screening for congenital hypothyroidism (CH) prevents the serious neuropsychological features of CH, but the question remains whether intelligence and motor skills of CH children treated early are completely normal. DESIGN: In this report we describe the rare case of two genetically identical twins, only one of whom was affected by CH due to thyroid agenesis. L-Thyroxine (9 microg/kg body weight/day) therapy was initiated at 27 days of age and was adequate throughout the follow-up. METHODS: Neuropsychological evaluation was performed on the twins in parallel from 3 months to 8 years of age. RESULTS: The CH twin (NB) did not show major neuromotor impairments but, compared with the unaffected twin (EB), she had a slight delay in postural/motor achievements and in language development that completely disappeared at 8 years of age. On standardised tests of intelligence, NB was indistinguishable from control children but, compared with her twin, she had lower IQ scores in most testing occasions up to 7 years of age (NB = 108 vs EB = 115). School achievements of NB did not significantly differ from those of her classmates but, compared with her twin, she scored worse in writing, mechanical reading, verbal memory, and possibly in arithmetic. CONCLUSIONS: Because the twins were genetically and phenotypically identical, were raised in the same environment, and received a similar education, it is concluded that hypothyroidism in utero and in the first neonatal month was responsible for the lower neuropsychological achievements of the CH twin. While foetal hypothyroidism is at present unavoidable, earlier diagnosis and initiation of treatment in neonates with CH are important and highly recommended.
The aim of this study was (i) to describe the number of therapeutic sessions in logopedic care in the Netherlands and (ii) to analyse which factors determine the number of sessions. An analysis was performed on a data set of 517 patients who received logopedic treatment. Data concerning patient characteristics, medical diagnosis, logopedic diagnosis (in terms of impairments, disabilities and handicaps) and the number of sessions were available. The mean number of sessions was 17.2 (SD 10.7). In a multivariate analysis 19.4% of the total amount of variance in the number of sessions was explained; impairments were the only significant determinant. Language development impairments, aural impairments and impairments of auditory functions were associated with a relatively large number of sessions; impairments in reading and writing were associated with relatively few sessions. Recommendations for the design of future studies on the optimal number of sessions are derived from these findings.
This paper surveys the contribution of A. R. Luria to aphasiology, emphasising the unique extent to which he integrated theory and therapeutic practice. The influence exerted by two prominent Russian figures, Pavlov and Vygotskii, is discussed. Luria's view of the primary defects underlying the main forms of aphasia is summarised; this is followed by a brief account of his application of certain notions of structural linguistics, including Jakobson's interpretations of the breakdown of language following brain damage. Examples are given of the wide range of simple tests included in Luria's neuropsychological investigations. The factual part of the article culminates in some examples of his methods of restoring higher cortical functions, in particular, verbal skills. The summary criticises certain aspects of Luria's analysis as being too mechanistic and simplistic, and cites criticisms of details from other workers, but considers many of his insights and the total coherence of his view of cortical functioning and cortical disturbance to be still of the utmost importance for clinicians undertaking aphasia therapy. The need for therapists everywhere to develop language rehabilitation with as systematic a basis as Luria's is stressed.
The representation of patient-specific information in the computer-based medical record requires an expressive formalism, which supports computational services particularly with respect to subsumption. These demands are not sufficiently met by conventional medical terminology and classification systems. This paper investigates the weaknesses of conventional systems, which are primarily coding systems and contain a certain amount of implicit knowledge. The alternatives are logic-based formalisms, particularly languages of the KL-ONE-family and conceptual graphs, which are based on the formal representation of meanings. Principles of these approaches are reported and compared to the concept representation language developed in the GALEN project. Finally, an overview on the BERNWARD model is given, which aims at the formal description, classification, and composition of medical concepts. In BERNWARD subsumption and part-whole relation are treated in a symmetrical manner. There are explicit and formal criteria for supporting the inference of generic and partitive relations.
This paper describes a research program intended to provide a better understanding of the influence of several putative risk factors for schizophrenia on child development and psychosis. Two related components of the overall program are described: the retrospective EnviroGen projects, which use a variety of putative risk factors to explain variance in several dimensions of schizophrenia and in psychotic symptoms in community controls, and Project Ice Storm, which prospectively examines the effects of prenatal maternal stress in the children of women who were exposed to the 1998 Quebec ice storm during their pregnancies. The EnviroGen projects have been successful in explaining variance in several dimensions of illness, including premorbid adjustment and severity of dissociative symptoms. Project Ice Storm has demonstrated the noxious effects of prenatal stress on cognitive and language development in children. We have also found that "ice storm children" exposed in specific weeks of gestation show greater dermatoglyphic asymmetry, as has been reported for samples of patients with schizophrenia. In both studies, prenatal maternal stress has been associated with more severe childhood behaviour problems. The combination of retrospective and prospective studies is a rich source of triangulated results providing information about developmental psychopathology.
Three groups, each with 15 seriously retarded institutionalized children, were employed to evaluate a modification of the sensorimotor patterning treatment developed at the Institutes for the Achievement of Human Potential (IAHP). The treatment group received a program modeled after the IAHP methods for approximately two hours per day, five days per week, for one year. For the same length of time, a matched motivational control group participated in activities with foster grandparents designed to create positive, success-oriented interactions to improve self-esteem and feelings of efficacy. A no treatment group continued to receive the standard care of the institution, which was enlightened and resident-oriented. A wide variety of behavioral measures were employed, including the IAHP Developmental Profile, IQ, motor and language development scales, and measures of affective, social, and maladaptive behaviors. On the majority of the measures there were no differences in posttest performance among any of the three groups. In no case did the pattern of change of the treatment group differ from that of its crucial comparison, the motivation group. However, all three groups showed some improvement in performance between the beginning and end of the study. It was concluded that the patterning treatment investigated in this study cannot be recommended for seriously retarded children.
OBJECTIVE: To assess the neurodevelopment of adopted children who had been exposed in utero to cocaine. DESIGN: A case-control observational study. PARTICIPANTS: Twenty-three children aged 14 months to 6.5 years exposed in utero to cocaine and their adoptive mothers, and 23 age-matched control children not exposed to cocaine and their mothers, matched with the adoptive mothers for IQ and socioeconomic status. SETTING: The Motherisk Programme at The Hospital for Sick Children, Toronto, a consultation service for chemical exposure during pregnancy. MAIN OUTCOME MEASURES: Height, weight and head circumference at birth and at follow-up, and achievement on standard tests of cognitive and language development. RESULTS: Compared with the control group, children exposed in utero to cocaine had an 8-fold increased risk for microcephaly (95% confidence interval 1.5 to 42.3); they also had a lower mean birth weight (p = 0.005) and a lower gestational age (p = 0.002). In follow-up the cocaine-exposed children caught up with the control subjects in weight and stature but not in head circumference (mean 31st percentile v. 63rd percentile) (p = 0.001). Although there were no significant differences between the two groups in global IQ, the cocaine-exposed children had significantly lower scores than the control subjects on the Reynell language test for both verbal comprehension (p = 0.003) and expressive language (p = 0.001). CONCLUSIONS: This is the first study to document that intrauterine exposure to cocaine is associated with measurable and clinically significant toxic neurologic effects, independent of postnatal home and environmental confounders. Because women who use cocaine during pregnancy almost invariably smoke cigarettes and often use alcohol, it is impossible to attribute the measured toxic effects to cocaine alone.
Prevention and early detection of deficits of the developing human being demand more and more complex solutions. Screening programmes have been developed to detect deficits and diseases before they cause symptoms. A well-organised and accurately performed screening programme can detect preliminary signs of diseases and may prevent irreversible damage. Early detection of deficits only makes sense if it is followed by consequences. Not only early detection of impairment or of children which are threatened by impairment is a very important medical task, but also the interdisciplinary cooperation in therapy. The most serious impact of hearing deficits in newborn is on the lack of speech-acquisition. It is an indisputable fact that the early detection of hearing impairment in newborn markedly improves the prognosis for further language development if early medical and/or rehabilitative therapy takes place. The following description of 10 years of experience with a newborn hearing screening programme that is effected in cooperation with the maternity ward and the ENT-clinic since 1981, can supply further arguments in favour of the need for early detection, the discussion on reflex audiometry, and to emphasise the need for cooperation of all relevant specialists.
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.
OBJECTIVE: To investigate the clinical and electroencephalographic (EEG) characteristics, therapeutic response and long-term prognosis of Landau Kleffner syndrome (LKS). METHODS: The clinical and EEG data of 10 children with LKS were analyzed, and therapeutic response and long-term outcome were followed up. RESULTS: The age of onset was from 2 to 10.5 years of age. All patients had acquired aphasia, characterized by verbal auditory agnosia. All patients had epileptic seizures. Partial motor seizures during sleep occurred in 8 patients, and other seizure type including atypical absence seizure and generalized tonic-clonic seizure were also observed. Psychological and behavioral abnormalities occurred in 9 patients. There were no abnormalities of hearing and neuro-imaging tests in all patients, and family histories were negative. All the patients had EEG abnormalities. Focal spike and waves of temporal lobe were recorded in 9 patients. Electrical status epilepticus during sleep (ESES) was observed on Video-EEG (VEEG) monitoring in 4 patients. Anti-epileptic drugs (AEDs) showed favorable effects on epileptic seizures, but no effects on aphasia. All patients responded to corticosteroid, and got language improved. Eight patients were followed up for long-term outcome. All patients were seizure free, while the level of language development was abnormal in 5 patients. The VEEG follow-up was conducted in 6 patients. Continuous epileptic discharges in slow sleep recurred in 2 patients after the discontinuation of steroid therapy. CONCLUSIONS: LKS is one of the childhood epileptic encephalopathy, and acquired aphasia and epileptic seizures are two main clinical characteristics. Aphasia is characterized by verbal auditory agnosia. Psychological and behavioral abnormalities are very common in children with LKS. Focal epileptic discharges were often located in temporal area, and usually generalized, and could be continuous during sleep. AEDs could control seizure but had no effects on aphasia. Early use of full dose corticosteroids could improve the language significantly. Long-term follow up showed that language impairments often remained, but the outcome in terms of EEG and epileptic seizure was good.
The purpose of this investigation is to determine whether a focused stimulation intervention focusing on lexical training has indirect, secondary effects on children's phonological abilities. Twenty-five toddlers with expressive vocabulary delays and their mothers were randomly assigned to intervention and control groups. The children were between 23 and 33 months of age at entry into the study and were at the single-word stage of language development. Parents of late talkers in the experimental group were trained to employ frequent, highly concentrated presentations of target words without requiring responses. Two measures of phonological diversity (i.e., syllable structure level and consonant inventory) and one measure of accuracy of production (i.e., percent consonants correct) were measured prior to and following intervention within the context of mother-child interactions. The toddlers who received intervention made treatment gains in two areas of phonological ability. They used a greater variety of complex syllable shapes and expanded their speech sound inventories to include more consonant sounds in both initial and final position. In contrast, there were no effects of language treatment on the accuracy of correct production when compared to the adult phonological system.
The 22q11.2 deletion syndrome (velocardiofacial/DiGeorge syndrome, 22q11.2DS) involves cardiac and craniofacial anomalies, marked deficits in visuospatial cognition, and elevated rates of psychosis. Although the mechanism is unknown, characteristic brain alterations may predispose to development of psychosis and cognitive deficits in 22q11DS. We applied cortical pattern matching and new methods for measuring cortical thickness in millimeters to structural magnetic resonance images of 21 children with confirmed 22q11.2 deletions and 13 demographically matched healthy comparison subjects. Thickness was mapped at 65 536 homologous points, based on 3-dimensional distance from the cortical gray-white matter interface to the external gray-cerebrospinal fluid boundary. A pattern of regionally specific cortical thinning was observed in superior parietal cortices and right parietooccipital cortex, regions critical for visuospatial processing, and bilaterally in the most inferior portion of the inferior frontal gyrus (pars orbitalis), a key area for language development. Several of the 30 genes encoded in the deleted segment are highly expressed in the developing brain and known to affect early neuronal migration. These brain maps reveal how haploinsufficiency for such genes can affect cortical development and suggest a possible underlying pathophysiology of the neurobehavioral phenotype.
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In the OPPS we have been studying the effects of marihuana used during pregnancy since 1978. The subjects are primarily middle-class, low risk women who entered the study early in their pregnancy. Extensive demographic and life-style information was gathered several times during pregnancy and postnatally. The offspring have been assessed repeatedly during the neonatal period, at least annually until the age of 6 and less frequently thereafter. The outcome measures include a variety of age appropriate standardized global measures as well as a large battery of neuropsychological tests attempting to assess discrete functioning within particular domains including language development, memory, visual/perceptual functioning, components of reading and sustained attention. The results suggest that in the neonate, state alterations and altered visual responsiveness may be associated with in utero exposure to marihuana. Global measures, particularly between the ages of 1 and 3 years, did not reveal an association with prenatal marihuana exposure. However, this initial, apparent absence of effect during early childhood should not be interpreted as in utero marihuana exposure having only transient effects for, as the children became older, aspects of neuropsychological functioning did discriminate between marihuana and control children. Domains associated with prenatal marihuana exposure at four years of age and older included increased behavioral problems and decreased performance on visual perceptual tasks, language comprehension, sustained attention and memory. The nature and the timing of the appearance of these deficits is congruent with the notion of prenatal marihuana exposure affecting 'executive functioning'--goal directed behavior that includes planning, organized search, and impulse control. Such an interpretation would be consistent with the extant literature with animals and non-pregnant adult users suggesting that chronic marihuana use may impact upon prefrontal lobe functioning.