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PubMed1989

An alternative view of pronominal errors in autistic children.

Persistent pronominal errors in autistic children have been attributed either to a psychosocial deficit or to a linguistic or cognitive deficit. However, recent studies of normal children suggest that the failure to observe pronouns in speech addressed to another person is a major reason children show pronominal errors. The present study investigated if pronominal errors in autistic children can be explained by this alternative hypothesis. Children's attentiveness to the pronoun models and their imitative behaviors were examined under two modeling conditions. The nonaddressee condition provided children with systematic opportunities to observe pronoun models directed to another person as well as those directed to themselves. The addressee condition provided only systematic opportunities to observe pronoun models directed to children. Clear evidence for the alternative hypothesis was obtained for second person pronouns, suggesting that pronominal errors in autistic children can be interpreted within the framework of normal language development.

Autistic Disorder↗
PubMed2005

Language cannot be reduced to biology: perspectives from neuro-developmental disorders affecting language learning.

The study of language knowledge guided by a purely biological perspective prioritizes the study of syntax. The essential process of syntax is recursion--the ability to generate an infinite array of expressions from a limited set of elements. Researchers working within the biological perspective argue that this ability is possible only because of an innately specified genetic makeup that is specific to human beings. Such a view of language knowledge may be fully justified in discussions on biolinguistics, and in evolutionary biology. However, it is grossly inadequate in understanding language-learning problems, particularly those experienced by children with neurodevelopmental disorders such as developmental dyslexia, Williams syndrome, specific language impairment and autism spectrum disorders. Specifically, syntax-centered definitions of language knowledge completely ignore certain crucial aspects of language learning and use, namely, that language is embedded in a social context; that the role of envrironmental triggering as a learning mechanism is grossly underestimated; that a considerable extent of visuo-spatial information accompanies speech in day-to-day communication; that the developmental process itself lies at the heart of knowledge acquisition; and that there is a tremendous variation in the orthographic systems associated with different languages. All these (socio-cultural) factors can influence the rate and quality of spoken and written language acquisition resulting in much variation in phenotypes associated with disorders known to have a genetic component. Delineation of such phenotypic variability requires inputs from varied disciplines such as neurobiology, neuropsychology, linguistics and communication disorders. In this paper, I discuss published research that questions cognitive modularity and emphasises the role of the environment for understanding linguistic capabilities of children with neuro-developmental disorders. The discussion pertains to two specific disorders, developmental dyslexia and Williams syndrome.

Genotype↗
PubMed2000

Rapidly progressive aphasia and motor neuron disease: a clinical, radiological, and pathological study of an autopsy case with circumscribed lobar atrophy.

This report concerns an autopsy case of rapidly progressive aphasia and motor neuron disease. The patient was a Japanese woman who was 75 years old at the time of death. The family history did not reveal hereditary burden. She developed language disturbances and difficulty in swallowing at age 74. Neurological examination 1 month after the disease onset revealed motor aphasia without dementia and bulbar sign, followed by muscle weakness of the four extremities. Neuroradiological examination revealed progressive atrophy of the anterior part of the left temporal lobe. She died of respiratory difficulty 10 months after the disease onset. Macroscopically, neuropathological examination showed circumscribed atrophy of the left perisylvian region and, histologically, neuronal loss in the cerebral cortex, including the primary motor area, substantia nigra, brain stem motor nuclei, and anterior horns of the spinal cord, in addition to obvious degeneration of the pyramidal tracts and presence of Bunina bodies. Ubiquitin-immunoreactive neuronal inclusions were present in the hippocampal dentate granular cells and frontotemporal cortical layer II neurons. Based on these clinicopathological findings and a review of the literature, we concluded that our case is the first reported case of amyotrophic lateral sclerosis with dementia that clinically showed rapidly progressive aphasia.

Aged↗
PubMed1996

The North American Maternal Phenylketonuria Collaborative Study, developmental assessment of the offspring: preliminary report.

Preliminary results of 2-year Bayley and 4-year McCarthy test scores are presented. To date numbers are too small to statistically correlate:- offspring from pregnancies in which diet was started prior to conception, offspring from pregnancies with phenylalanine (Phe) levels of 120-360 mumol/l versus 360-600 mumol/l, influence of home environment, influence of maternal nutrition, language development, behaviour/hyperactivity, Revised Wechsler Intelligence Score, school performance and learning disabilities. Two-year Bayley scores (mental and motor) revealed a median developmental quotient of 113 in 58 offspring from control pregnancies, 104 in 19 offspring from untreated "non-phenylketonuria (PKU) mild hyperphenylalaninaemia" (natural Phe levels < 600 mumol/l) pregnancies, 104 in 32 offspring from pregnancies whose Phe levels decreased on treatment to < 600 mumol/l by 10 weeks gestation and remained in that range for the remainder of the pregnancy, 98 in offspring from 32 pregnancies where permanent control was not achieved until 10-20 weeks and 72 in offspring from 51 pregnancies where control was not attained until after 20 weeks gestation. IQ scores determined by the McCarthy test at age 4-5 years revealed a mean of 112 in 43 offspring of control mothers, 99 in 12 offspring of "non PKU mild hyperphenylalaninaemia" women, 93 in 14 offspring whose mother's Phe levels were continuously under 600 mumol/l by 10 weeks gestation, 88 in 24 offspring from pregnancies in metabolic control by 10-20 weeks and 73 in 28 offspring of pregnancies not in metabolic control until after 20 weeks gestation. These preliminary results suggest that early and adequate dietary treatment during pregnancy in maternal PKU may provide some protection to the fetus for later intellectual development but much more data is required before definitive statements about cognition can be made.

Child Development↗
PubMed2005

[German phoneme contrast hierarchy. A study with preschool children].

BACKGROUND: Phonemes are defined as the smallest possible units of speech with a distinctive function. Major and minor class features are used to describe individual phonemes. Phoneme opposition is based on distinctive feature contrasts. Here we constructed minimal pairs (MP) with different degrees of opposition. Preschool children were asked to repeat these MP after auditory presentation. We then investigated whether the phoneme contrast hierarchy corresponded to the empirically found degree of difficulty. METHODS: A total of 161 preschool children (96 boys, 65 girls) participated voluntarily. Real word MP (RW-MP) and nonsense word MP (L-MP) were presented from a CD recording via loudspeakers. MP were based on phonemes covering a wide range of phoneme oppositions. The children had to repeat the MP. Confusion errors were compared to the degree of phoneme opposition. RESULTS: A weak correlation was found between the theoretical degree of phoneme opposition and the phoneme confusion error matrix. When errors within an item block were added, no significant correlation was found. However, for MP with the least degree of opposition, confusion errors were always highest. DISCUSSION: The degree of markedness in MP influenced the correct perception/production of these MP. This influence must be regarded as fairly weak.

Child↗
PubMed2003

Effectiveness of a TEOAE-based screening program. Can a patient-tracking system effectively be organized using modern information technology and central data management?

It has been shown that detecting and treating children with hearing loss at an early age will improve their speech and language development. The implementation of universal hearing screening programs is therefore one of the major goals in pediatric audiology. One problem of present screening programs is high lost to follow-up rates. The aim of this paper was to evaluate the effectiveness of a patient tracking system based on central data management and data transmission via the internet. The screening program was organized as a TEOAE (transitory evoked otoacoustic emissions)-based three-stage procedure and covered a complete German federal state (Saarland). The measurements of the first stage took place in well-baby nurseries (WBNs) as well as neonatal intensive care units (NICUs). Measurements of the second stage were performed by pediatricians and ENT physicians on an outpatient basis. The third stage comprised diagnostic ABR (auditory brainstem response) measurements performed by pediatric audiologists. Using a central data management system we were able to identify and follow every child not screened or with negative results. The overall coverage in the first stage was 93% of all newborns. A screening result of the second stage could be obtained for 90% of the children. Four out of 3,830 children screened turned out to have a relevant hearing loss and were fitted with hearing aids. A TEOAE-based newborn hearing screening system can be organized effectively. Central data management as well as interdisciplinary organization of the follow-up are important prerequisites for the success of a hearing screening program. A follow-up system as proposed in this paper can also be implemented in AABR (automated auditory brainstem response)-based programs.

Database Management Systems↗
PubMed2003

Preschool development of very low birth weight children born 1994-1995.

UNLABELLED: This study reports on the developmental outcome of a sample of pre-term children with a birth weight < or =1500 g born in 1994 and 1995 studied at the age of 5 to 6 years. The sample included 60 out of 81 surviving pre-term children (74.1%) of a German neonatal intensive care unit which was matched to a control group of 60 kindergarten children of the same region. The results show significant differences between term and pre-term children with regard to their intellectual development, language comprehension, attentiveness, and hyperactivity. Moreover, the pre-term children required more early intervention to compensate for developmental problems. The developmental deficits were intensified by the presence of biological risk factors like increasingly low birth weight, bronchopulmonary dysplasia and intraventricular haemorrhage. CONCLUSION: differences between term and pre-term children still exist, although the early 1990s witnessed fundamental changes in the treatment of pre-term children. The persistence of these differences is explained mainly by the increase in the survival rate of children with high biological risk factors.

Attention Deficit and Disruptive Behavior Disorder↗
PubMed1998

Parental recognition of developmental abnormalities in autism.

In order to identify factors associated with the early detection and referral of children with pervasive developmental disorders, a sample of 82 consecutive referrals to an outpatient diagnostic service was studied. All children were thoroughly assessed with the Autism Diagnostic Interview (ADI), standardized psychological tests and direct observations. Data from the ADI on the first symptoms to arouse parental concern and on the first professional advice sought were analyzed. The mean age of children was 19.1 months (SD = 9.4) when the parents first became concerned, and the first professional advice was sought when children were 24.1 months old (SD = 11.7). The most common parental concerns were for speech and language development, followed by abnormal socio-emotional response, and medical problem or delay in milestone. In both bivariate and multiple regression analyses, the mean age of children at first parental concern and professional advice was significantly lower in the presence of mental retardation in the child, of an older sibling in the family, and of first parental concerns for medical problem/delay in milestone. More specific autistic behaviours, child's gender, social class and place of residence did not influence the age of recognition of the disorder in this sample. Health visitors and general practitioners were the first professionals contacted by parents. The implications of these findings for early detection and diagnosis of autism are discussed.

Age Factors↗
PubMed2005

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

Mutations in the GJB2 (connexin 26, Cx26) gene are the major cause of nonsyndromic hearing impairment in many populations. Genetic testing offers opportunities to determine the cause of deafness and predict the course of hearing, enabling the prognostication of language development. In the current study, we compared severity of hearing impairment in 60 patients associated with biallelic GJB2 mutations and assessed the correlation of genotypes and phenotypes. Within a spectrum of GJB2 mutations found in the Japanese population, the phenotype of the most prevalent mutation, 235delC, was found to show more severe hearing impairment than that of V37I, which is the second most frequent mutation. The results of the present study, taken together with phenotypes caused by other types of mutations, support the general rule that phenotypes caused by the truncating GJB2 mutations are more severe than those caused by missense mutations. The present in vitro study further confirmed that differences in phenotypes could be explained by the protein expression pattern.

Adolescent↗
PubMed2006

A new neurobehavioral model of autism in mice: pre- and postnatal exposure to sodium valproate.

Autism symptoms, including impairments in language development, social interactions, and motor skills, have been difficult to model in rodents. Since children exposed in utero to sodium valproate (VPA) demonstrate behavioral and neuroanatomical abnormalities similar to those seen in autism, the neurodevelopmental effects of this antiepileptic agent were examined in mice following its pre- or postnatal administration. Exposed pups were evaluated in a battery of neurodevelopmental procedures designed to assess VPA-induced retardation (wherein a behavior fails to mature on schedule), regression (wherein a behavior does mature on time but then deteriorates), or intrusions (wherein normal behaviors are overshadowed by stereotypic or self-injurious behaviors). The resulting observations were interpreted in the context of this new strategy to model autism.

Animals↗
PubMed2003

The Etiology, Pathophysiology, and Management of Otitis Media with Effusion.

Otitis media with effusion (OME) is a common and important condition that may result in developmental delay in children, and significant health care resources are devoted to its management. Newer techniques including polymerase chain reaction are implicating organisms not previously considered important in etiology. The role of gastroesophageal reflux as a cause of OME is likely to receive greater research attention. Regarding prevention, more is being learned about potentially modifiable risk factors such as environmental smoke, care outside the home, and breast feeding. Although immunization may to play a role in the future, existing evidence suggests that the general population of children should not be immunized in order to prevent OME. Several major studies have recently added to the understanding of epidemiology and management. Large trials in the United States, the Netherlands, and the UK suggest that OME is not an appropriate condition to include in a screening program. In addition, the advantages of early treatment with ventilation tubes over watchful waiting in terms of language development tend be modest and diminish by about 18 months. Treatment with hearing aids should be further evaluated. The search for effective medical management continues, and better ways are being identified of targeting interventions to those children with OME who are most likely to benefit.

Journal Article↗
PubMed1993

Behavioral and neuronal changes during treatment of mixed transcortical aphasia: a case study.

The development of language mechanisms outside the traditional language regions is evidenced by the case of K.S., a patient with chronic mixed transcortical aphasia, that is, good repetition performance compared to all other language abilities. The aphasia was caused by an infarction of the left a. carotis interna that completely destroyed the left perisylvian language region and adjacent structures. Five years post onset the patient underwent intensive aphasia therapy. In the treatment setting chosen, both speech production and comprehension abilities improved as demonstrated by adequacy and reaction time scores. It is argued that the behavioral changes observed are likely to be due to (a) newly acquired communicative strategies and (b) neuronal changes within K.S.'s brain. The behavioral changes are explained in terms of strengthening of synaptic connections and formation of Hebbian cell assemblies corresponding to words.

Aged↗
PubMed1976

Relationship of clinician feedback to child initiated verbalization during language training.

A systematic observational procedure was used to obtain frequency counts of client and clinician initiated interchanges and clinician feedback during these interchanges. Repeated recordings were made of eight different speech pathologists interacting with two groups of four preschool children. Child responses to clinician initiated interchanges received significantly more positive feedback than child initiated verbalizations to the clinician. However, considerable variation among clinicians was found both in the frequency of spontaneous verbalizations by their clients and their reaction to this verbalization. Stepwise multiple regression analyses indicated that the type and amount of clinician feedback for client initiated verbalizations was significantly related to the frequency of these utterances to the clinician, but not to other children.

Child, Preschool↗