Severe expressive-language delay related to duplication of the Williams-Beuren locus.
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The Williams-Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the WBS interval should also occur, and here we present such a case description. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent expressive language observed in persons with WBS. Our results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities. (+info)
Risk factors for persisting neurological and cognitive impairments following cerebral malaria.
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BACKGROUND: Persisting neurological and cognitive impairments are common after cerebral malaria. Although risk factors for gross deficits on discharge have been described, few studies have examined those associated with persistent impairments. METHODS: The risk factors for impairments following cerebral malaria were determined by examining hospital records of 143 children aged 6-9 years, previously admitted with cerebral malaria, who were assessed at least 20 months after discharge to detect motor, speech and language, and other cognitive (memory, attention, and non-verbal functioning) impairments. RESULTS: The median age on admission was 30 months (IQR 19-42) and the median time from discharge to assessment was 64 months (IQR 40-78). Thirty four children (23.8%) were defined as having impairments: 14 (9.8%) in motor, 16 (11.2%) in speech and language, and 20 (14.0%) in other cognitive functions. Previous seizures (OR 5.6, 95% CI 2.0 to 16.0), deep coma on admission (OR 28.8, 95% CI 3.0 to 280), focal neurological signs observed during admission (OR 4.6, 95% CI 1.1 to 19.6), and neurological deficits on discharge (OR 4.5, 95% CI 1.4 to 13.8) were independently associated with persisting impairments. In addition, multiple seizures were associated with motor impairment, age <3 years, severe malnutrition, features of intracranial hypertension, and hypoglycaemia with language impairments, while prolonged coma, severe malnutrition, and hypoglycaemia were associated with impairments in other cognitive functions. CONCLUSIONS: Risk factors for persisting neurological and cognitive impairments following cerebral malaria include multiple seizures, deep/prolonged coma, hypoglycaemia, and clinical features of intracranial hypertension. Although there are overlaps in impaired functions and risk factors, the differences in risk factors for specific functions may suggest separate mechanisms for neuronal damage. These factors could form the basis of future preventive strategies for persisting impairments. (+info)
The effect of age at cochlear implant initial stimulation on expressive language growth in infants and toddlers.
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This study examined the growth of expressive language skills in children who received cochlear implants (CIs) in infancy. Repeated language measures were gathered from 29 children who received CIs between 10 and 40 months of age. Both cross-sectional and growth curve analyses were used to assess the relationship between expressive language outcomes and CI experience. A beneficial effect of earlier implantation on expressive language growth was found. Growth curve analysis showed that growth was more rapid in children implanted as infants than those implanted as toddlers. Age at initial stimulation accounted for 14.6% of the variance of the individual differences in expressive language growth rates. (+info)
Screening for speech and language delay in preschool children: systematic evidence review for the US Preventive Services Task Force.
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BACKGROUND: PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275). Published in the public domain by the American Academy of Pediatrics. Speech and language development is a useful indicator of a child's overall development and cognitive ability and is related to school success. Identification of children at risk for developmental delay or related problems may lead to intervention services and family assistance at a young age, when the chances for improvement are best. However, optimal methods for screening for speech and language delay have not been identified, and screening is practiced inconsistently in primary care. PURPOSE: We sought to evaluate the strengths and limits of evidence about the effectiveness of screening and interventions for speech and language delay in preschool-aged children to determine the balance of benefits and adverse effects of routine screening in primary care for the development of guidelines by the US Preventive Services Task Force. The target population includes all children up to 5 years old without previously known conditions associated with speech and language delay, such as hearing and neurologic impairments. METHODS: Studies were identified from Medline, PsycINFO, and CINAHL databases (1966 to November 19, 2004), systematic reviews, reference lists, and experts. The evidence review included only English-language, published articles that are available through libraries. Only randomized, controlled trials were considered for examining the effectiveness of interventions. Outcome measures were considered if they were obtained at any time or age after screening and/or intervention as long as the initial assessment occurred while the child was < or =5 years old. Outcomes included speech and language measures and other functional and health outcomes such as social behavior. A total of 745 full-text articles met our eligibility criteria and were reviewed. Data were extracted from each included study, summarized descriptively, and rated for quality by using criteria specific to different study designs developed by the US Preventive Services Task Force. RESULTS: The use of risk factors for selective screening has not been evaluated, and a list of specific risk factors to guide primary care physicians has not been developed or tested. Sixteen studies about potential risk factors for speech and language delay in children enrolled heterogeneous populations, had dissimilar inclusion and exclusion criteria, and measured different risk factors and outcomes. The most consistently reported risk factors included a family history of speech and language delay, male gender, and perinatal factors. Other risk factors reported less consistently included educational levels of the mother and father, childhood illnesses, birth order, and family size. The performance characteristics of evaluation techniques that take < or =10 minutes to administer were described in 24 studies relevant to screening. Studies that were rated good to fair quality reported wide ranges of sensitivity and specificity when compared with reference standards (sensitivity: 17-100%; specificity: 45-100%). Most of the evaluations, however, were not designed for screening purposes, the instruments measured different domains, and the study populations and settings were often outside of primary care. No "gold standard" has been developed and tested for screening, reference standards varied across studies, few studies compared the performance of > or =2 screening techniques in 1 population, and comparisons of a single screening technique across different populations are lacking. Fourteen good- and fair-quality randomized, controlled trials of interventions reported significantly improved speech and language outcomes compared with control groups. Improvement was demonstrated in several domains including articulation, phonology, expressive language, receptive language, lexical acquisition, and syntax among children in all age groups studied and across multiple therapeutic settings. Improvement in other functional outcomes such as socialization skills, self-esteem, and improved play themes were demonstrated in some, but not all, of the 4 studies that measured them. In general, studies of interventions were small and heterogeneous, may be subject to plateau effects, and reported short-term outcomes based on various instruments and measures. As a result, long-term outcomes are not known, interventions could not be compared directly, and generalizability is questionable. CONCLUSIONS: Use of risk factors to guide selective screening is not supported by studies. Several aspects of screening have been inadequately studied to determine optimal methods, including which instrument to use, the age at which to screen, and which interval is most useful. Trials of interventions demonstrate improvement in some outcome measures, but conclusions and generalizability are limited. Data are not available addressing other key issues including the effectiveness of screening in primary care settings, role of enhanced surveillance by primary care physicians before referral for diagnostic evaluation, non-speech and language and long-term benefits of interventions, and adverse effects of screening and interventions. (+info)
Life with communication changes in Parkinson's disease.
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BACKGROUND: Acoustic and perceptual changes to speech in Parkinson's disease (PD) have been widely studied. Little empirical evidence exists concerning the individual's own perception of changes, the impact these have on their life and coping strategies to deal with them. OBJECTIVE: To establish if, and how, changes in communication impact on the lives of people with PD. DESIGN: In-depth interviews with qualitative analysis of content. SETTING: Community. SUBJECTS: Twenty-three men and 14 women with PD. METHODS: Participants were purposively sampled to give a mix of men, women, family circumstances, stage and duration of PD and severity of speech symptoms. Individuals were interviewed at home. Interviews were transcribed. Emergent themes were identified and fed back to participants for confirmation and clarification. RESULTS: Participants identified changes to voice and articulation. Language changes featured prominently. Four impact themes: (i) interaction with others, (ii) problems with conversations, (iii) feelings about intelligibility and (iv) voice; and four corresponding coping themes (a) helping others understand, (b) managing conversations, (c) monitoring and adjusting and (d) physical strategies emerged. Of main concern was not the nature of speech-voice-language changes, but how these affected self-concept, participation inside and outside the family and family dynamics. Individuals employed a range of fluid coping strategies moving from background withdrawal to foreground striving strategies. CONCLUSIONS: Speech and language changes in PD impact upon individual and family life long before frank impairment of intelligibility is apparent. The role of early referral to speech and language therapy is therefore worthy of detailed investigation. (+info)
Analysis of fundamental frequency, jitter, shimmer and vocal intensity in children with phonological disorders.
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Phonological Disorder is a disturbance of primary manifestation of undefined causes that makes speech become unintelligible. The analysis of vocal parameters becomes important in the process of diagnosis of this disorder, since voice disorders could interfere in the production of speech sounds. AIM: The objective of this study was to verify vocal characteristics related to the intensity and fundamental frequency--F0--and their disturbance indexes--jitter and shimmer--in children with phonological disorders. STUDY DESIGN: Clinical prospective with transversal cohort. MATERIAL AND METHOD: There were 40 children, 20 of them with phonological disorders and 20 with no speech and language disturbances. Phonological exams with the ABFW infantile language test and spontaneous speech were applied. The Computer Speech Lab was used to record and perform acoustic analyses of the vowels /a/, /e/, /i/, through the vocal parameters: fundamental frequency, intensity, jitter and shimmer. RESULTS: F0--vowel /e/ was smaller, on average, in the Phonological Disorder Group and it was 126 Hz in the Control Group. To shimmer and jitter there was no evidence that the means of the Phonological Disorder Group were different from the ones of the Control Group (p= 0.191, p= 0.865, respectively). As for intensity, there was evidence that the average did not differ in the Phonological Disorder Group and the Control Group (p= 0.002). CONCLUSION: The frequency of the vowel /e/ was smaller in the Phonological Disorder Group. There was difference between the two groups regarding the means of intensity of vowels /a/, /e/ and /i/, smaller in the Phonological Disorder Group. No differences between the groups were found regarding the averages of jitter and shimmer. (+info)
Acrylamide encephaloneuropathy due to well water pollution.
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All five members of a family developed subacutely mental confusion and/or truncal ataxia. Symptoms and signs of polyneuropathy were seen later. The well water in the patients' home contained 400 ppm acrylamide. The present cases are unique in that they are cases of acrylamide poisoning induced by oral intake and percutaneous penetration, and that central nervous system symptoms were prominent. (+info)
Language learning in Down syndrome: the speech and language profile compared to adolescents with cognitive impairment of unknown origin.
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Children and adolescents with Down syndrome show an emerging profile of speech and language characteristics that is typical of the syndrome (Chapman & Hesketh, 2000; Chapman, 2003; Abbeduto & Chapman, 2005) and different from typically developing children matched for nonverbal mental age, including expressive language deficits relative to comprehension that are most severe for syntax, and, in adolescence, strengths in comprehension vocabulary, improvements in expressive syntax, but losses in comprehension of syntax (Chapman, Hesketh & Kistler, 2002). Here we compare 20 adolescents with Down syndrome to 16 individuals with cognitive impairment of unknown origin, statistically matched for age and nonverbal mental age, to show that the age-related strengths in vocabulary comprehension are not limited to the Down syndrome phenotype, but are limited to a certain type of vocabulary test: for both groups, performance on the Peabody Picture Vocabulary Test-3 is significantly greater than performance on the vocabulary subtest of the Test of Auditory Comprehension of Language-3, which does not differ from the syntax comprehension subtests. Vocabulary size, but not conceptual level, is a strength for adolescents with cognitive impairment. In contrast, deficits in auditory-verbal working memory, syntax and vocabulary comprehension, and narration of picture-books without an opportunity to preview them are all specific to the adolescent group with Down syndrome. The expressive language deficit disappears when a preview opportunity and picture support is given. (+info)