Developmental impairments following severe falciparum malaria in children.
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OBJECTIVE: Neurological deficits are reported in children after cerebral malaria (CM) but little is known about the prevalence and characteristics of persisting neurocognitive consequences. The prevalence of developmental impairments following other complications of falciparum malaria, such as multiple, prolonged or focal seizures, is not known. Thus, our objective was to investigate the long-term developmental outcome of CM and malaria with complicated seizures (M/S). METHODS: We followed up a cohort of children previously exposed to CM or M/S and children unexposed to either condition. All children between 6 and 9 years of age, exposed to CM, and an equal number of children exposed to M/S were identified from databases of hospital admissions from 1991 to 1998. The unexposed group was randomly selected from a census database. The children's performance was measured using assessments of cognition, motor, speech and language, hearing and vision. A parental questionnaire was used to identify children with epilepsy. RESULTS: CM group scores were significantly lower than unexposed group scores on the assessments of higher level language (adjusted mean difference -1.63, 95% CI: -2.99 to -0.27), vocabulary (-0.02, 95% CI: -0.04 to -0.01), pragmatics (OR 2.81, 95% CI: 1.04-7.6) and non-verbal functioning (-0.33, 95% CI: -0.61 to -0.06). The areas of significantly reduced functioning for the M/S group were concentrated on phonology (OR 2.74, 95% CI: 1.26-5.95), pragmatics (OR 3.23, 95% CI: 1.2-8.71) and behaviour (OR 1.8, 95% CI: 1.0-3.23). The performance of the active epilepsy group was significantly poorer than that of the group without epilepsy on the tests of comprehension, syntax, pragmatics, word finding, memory, attention, behaviour and motor skills. CONCLUSIONS: CM and M/S are associated with developmental impairments. If these impairments persist, this may have implications for least 250,000 children in Sub-Saharan Africa each year. Active epilepsy significantly increases the risk of cognitive and behavioural problems in children with a history of severe malaria. (+info)
Active treatments for aprosodia secondary to right hemisphere stroke.
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This study investigates the effects of two mechanism-based treatments for expressive aprosodia. Three participants, two women and one man, had a right hemisphere cerebral infarction resulting in affective aprosodia with greater expressive than receptive deficits. Trained raters determined presence of aprosodia by judging participants' performance on two emotional communication batteries. A single-subject design with replication across three participants was employed. Sentence production with the use of treated and nontreated emotions was measured during baseline and treatment phases. Sentences were scored for accuracy by a trained rater blind to time of testing and analyzed visually and statistically. Effect sizes calculated on the resulting data for each participant and treatment confirmed modest to substantial treatment effects for both treatments in all three participants. Because of a relative paucity of treatment studies investigating expressive aprosodia, these data are among the first to suggest that aprosodia may be amenable to behavioral treatments. (+info)
A woman who couldn't speak: report of methotrexate neurotoxicity.
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The association between methotrexate therapy and idiosyncratic neurological complications is well recognised in children. This case illustrates the importance of considering the diagnosis of methotrexate toxicity in an adult patient with behavioural and speech disturbances, who received it by intrathecal route only and in whom the only indicator was an abnormal electroencephalographic study. (+info)
What consistency of food is best for children with cerebral palsy who cannot chew?
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Video recordings were made of 67 children with cerebral palsy and 64 able bodied children eating soft boiled ('non-mashed') and mashed potato. Those children with cerebral palsy who had no speech, presumed to have poor oral motor function, took significantly longer to eat non-mashed than mashed potato. Children with cerebral palsy, especially those with no speech, were more likely to cough or choke while eating non-mashed than mashed potato. It is recommended that children with cerebral palsy who have poor oral motor function are offered food that they can eat with the least frustration or distress. This may also improve their dietary intake and state of nutrition. (+info)
Parkinsonism following bilateral lesions of the globus pallidus: performance on a variety of motor tasks shows similarities with Parkinson's disease.
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OBJECTIVES: The authors report the results of detailed investigations into the motor function of a patient who, after a heavy drinking binge and subsequent unconsciousness, respiratory acidosis, and initial recovery, developed parkinsonism characterised by hypophonic speech and palilalia, "fast micrographia", impaired postural reflexes, and brady/akinesia in proximal (but not distal) alternating upper limb movements. METHODS: In addition to brain magnetic resonance imaging (MRI), different aspects of motor function were investigated using reaction time (RT) tasks, pegboard and finger tapping tasks, flex and squeeze tasks, movement related cortical potentials (MRCPs), and contingent negative variation (CNV). Cognitive function was also assessed. The results were compared to those previously reported in patients with Parkinson's disease (PD). RESULTS: Brain MRI showed isolated and bilateral globus pallidus (GP) lesions covering mainly the external parts (GPe). These lesions were most probably secondary to respiratory acidosis, as other investigations failed to reveal an alternative cause. The results of the RT tasks showed that the patient had difficulties in preparing and maintaining preparation for a forthcoming movement. MRCP and CNV studies were in line with this, as the early component of the MRCP and CNV were absent prior to movement. The patient's performance on pegboard and finger tapping, and flex and squeeze tasks was normal when performed with one hand, but clearly deteriorated when using both hands simultaneously or sequentially. CONCLUSIONS: In general, the present results were similar to those reported previously in patients with PD. This provides further indirect evidence that the output of globus pallidus is of major importance in abnormal motor function in PD. The possible similarities of the functional status of GP in PD and our case are discussed. (+info)
Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)).
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We report on a new case of a single band duplication of the long arm of chromosome 7, dir dup (7)(q36----qter). The major manifestations are developmental delay (particularly speech), frontal bossing, macrocrania, and constant drooling. When compared with other cases involving a 7q duplication of various segments, our patient has a few minor anomalies. This case illustrates the genotype/phenotype correlation in a child with a single band duplication which has resulted in duplication of 7q36----qter. A tabulation of reported cases with duplication of various segments of 7q is provided, which may serve as an aid for clinicians. (+info)
Quality of Life in siblings of autistic patients.
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OBJECTIVE: To evaluate the Quality of Life (QoL) among siblings of autistic patients. METHODS: Casuistic: siblings of autistic patients (n = 31) and, as a control group, siblings of patients with speech disorder (n = 30). INCLUSION CRITERIA: age between 7 and 11 years old; absence of current mental disorder; regular attendance to school. EXCLUSION CRITERIA: antecedents of clinical or psychiatric diseases; disabilities (visual, auditive or motor); antecedents of cognitive and/or intelligence disabilities. Instruments included a questionnaire which evaluated the quality of life in a subjective way. RESULTS: it was observed worse QoL among siblings of autistic patients (p = 0.000). CONCLUSION: The hypothesis that the quality of life was compromised in children (aged 7 to 11) by the presence of an autistic sibling was confirmed, and was worse than that of siblings of children with speech disorders. (+info)
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.
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FOXP2, the first gene to have been implicated in a developmental communication disorder, offers a unique entry point into neuromolecular mechanisms influencing human speech and language acquisition. In multiple members of the well-studied KE family, a heterozygous missense mutation in FOXP2 causes problems in sequencing muscle movements required for articulating speech (developmental verbal dyspraxia), accompanied by wider deficits in linguistic and grammatical processing. Chromosomal rearrangements involving this locus have also been identified. Analyses of FOXP2 coding sequence in typical forms of specific language impairment (SLI), autism, and dyslexia have not uncovered any etiological variants. However, no previous study has performed mutation screening of children with a primary diagnosis of verbal dyspraxia, the most overt feature of the disorder in affected members of the KE family. Here, we report investigations of the entire coding region of FOXP2, including alternatively spliced exons, in 49 probands affected with verbal dyspraxia. We detected variants that alter FOXP2 protein sequence in three probands. One such variant is a heterozygous nonsense mutation that yields a dramatically truncated protein product and cosegregates with speech and language difficulties in the proband, his affected sibling, and their mother. Our discovery of the first nonsense mutation in FOXP2 now opens the door for detailed investigations of neurodevelopment in people carrying different etiological variants of the gene. This endeavor will be crucial for gaining insight into the role of FOXP2 in human cognition. (+info)