Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 11 de 11
Filter
Add more filters










Publication year range
1.
Neurosci Lett ; 686: 23-27, 2018 11 01.
Article in English | MEDLINE | ID: mdl-30176339

ABSTRACT

Changes in the sleep-wake cycle are frequent and may impair quality of life in individuals with cerebral palsy (CP). To investigate if a lack of a day/night variation of melatonin content could be related with sleep disorders (SD), the SD were evaluated with a Sleep Questionnaire and the melatonin content using ELISA in 33 individuals with CP and 24 controls. The indicative of SD were present in 47% of CP group, and the most frequent was the indicative of sleep breathing disorder. The CP group showed higher diurnal and lower nocturnal melatonin content than controls. Individuals with CP that had indicative of SD showed lower nocturnal content of melatonin than those without SD. These results showed that the lack of the day/night variation of melatonin was related to SD in individuals with CP.


Subject(s)
Cerebral Palsy/metabolism , Circadian Rhythm/physiology , Melatonin/metabolism , Sleep Wake Disorders/metabolism , Adolescent , Child , Child, Preschool , Female , Humans , Male , Quality of Life , Sleep/physiology , Sleep Wake Disorders/physiopathology , Surveys and Questionnaires
2.
Sleep ; 41(3)2018 03 01.
Article in English | MEDLINE | ID: mdl-29325155

ABSTRACT

Study Objectives: Zika virus infection during pregnancy may result in congenital Zika syndrome (CZS), whose characteristics are being described. Methods: The present study aimed to investigate the sleep characteristics of 136 infants/toddlers (88 with CZS and 48 with typical development (TD), age and gender matched, 60% girls and 40% boys in both groups) using the Brief Infant Sleep Questionnaire. The ages of children in both groups ranged from 5 to 24 months (CZS 15.9 ± 0.4 vs. TD 15.8 ± 1.0 months, P= 0.90). Results: The results show that 34.1% of CZS and 2% of TD children were defined as poor sleepers, 15% of CZS and 2% of TD children remained awake at night for a period longer than 1 hour, and 24% of CZS and 2% of TD children slept less than 9 hours. The CZS group showed shorter total sleep time (CZS 11.24 ± 2.6 vs. TD 12.02 ± 1.9 hours, P= 0.03) and shorter nocturnal sleep duration than the TD group (CZS 8.2 ± 0.2 vs. TD 9.4 ± 0.2 hours, P= 0.0002). In contrast to the control group (P= 0.02, r= -0.34), in the CZS group, no correlation was found between age and nocturnal wakefulness. Future studies should explore these data in relation to the development and maturation of the central nervous system of these children. Conclusions: Considering the well-known consequences of poor sleep quality on health in several populations, the presence of sleep disorders should be considered in CZS using multidisciplinary treatments.


Subject(s)
Sleep Wake Disorders/epidemiology , Sleep Wake Disorders/physiopathology , Sleep/physiology , Wakefulness/physiology , Zika Virus Infection/epidemiology , Zika Virus Infection/physiopathology , Brazil/epidemiology , Child, Preschool , Female , Humans , Infant , Male , Sleep Wake Disorders/diagnosis , Surveys and Questionnaires , Syndrome , Zika Virus , Zika Virus Infection/diagnosis
3.
Child Neuropsychol ; 23(6): 631-641, 2017 Aug.
Article in English | MEDLINE | ID: mdl-27224940

ABSTRACT

Several studies have documented the high prevalence of psychopathology and behavior problems in Williams syndrome (WS). However, the links between cognitive development and such symptoms need further clarification. Our study aims to expand current knowledge on levels of behavior problems and its links to cognition in a sample of Brazilian individuals with WS. A total of 25 children and adolescents with WS and their parents participated in this study. The participants' IQs were assessed with the Wechsler Scales of Intelligence (for children or adults) and parental reports of psychopathology/behavior problems were collected using the Child Behavior Checklist (CBCL). The presence of clinically significant attention problems was a main feature in our sample of children and adolescents with WS. In the children, higher IQ scores were found to be significantly associated with less externalizing problems, while in the adolescents cognitive abilities were found to be associated with less internalizing symptoms. These results provide further insight into the links between psychopathology and behavior problems and cognitive abilities in WS, and suggest the need to take age into consideration when analyzing such relationships.


Subject(s)
Cognition/physiology , Mental Disorders/psychology , Psychopathology/methods , Williams Syndrome/psychology , Adolescent , Child , Female , Humans , Male
4.
Front Hum Neurosci ; 9: 347, 2015.
Article in English | MEDLINE | ID: mdl-26150777

ABSTRACT

The aim of this study was to investigate the correlation between sleep disorders and the behavior of subjects with autism spectrum disorder (ASD) and control subjects using specific questionnaires. A small percentage (1.8%) of the control subjects had symptoms indicative of sleep-breathing disorders (SBD) and nocturnal sweating. Fifty-nine percent of the subjects with ASD had symptoms indicative of at least one sleep disorder, with SBD the most commonly reported (38%). In the control group, the symptoms of SBD were correlated with social, thought, attentional, aggression, externalizing and behavioral problems. In the ASD group, disorders of arousal (DA) were correlated with thinking problems, and disorders of excessive somnolence were correlated with thinking and behavioral problems. These results suggest that children and adolescents with ASD have a high frequency of sleep disorders, which in turn correlate with some of the behavioral traits that they already exhibit. Furthermore, sleep disturbances, when present in the typically developing children, also correlated with behavioral problems.

5.
Psychol. neurosci. (Impr.) ; 7(2): 151-158, Jan.-June 2014. tab
Article in English | LILACS | ID: lil-718330

ABSTRACT

A magnitude comparison deficit has been frequently observed in velocardiofacial syndrome (Del22q11.2). We hypothesized that this deficit extends to impairments in the acuity of the approximate number system (ANS). Three groups of children aged 8-14 years were investigated: Del22q11.2 children (n = 12), low cognitive ability children (LCA; n = 12), and matched typically developing children (TD; n = 28). All children were assessed with a simple reaction time task and symbolic and nonsymbolic number comparison tasks. To estimate the acuity of the ANS, the Weber fraction (w) was calculated from the nonsymbolic comparison task. The Del22q11.2 group exhibited a significantly higher w compared with the other groups. Importantly, no significant differences were found in w between the TD and LCA groups. The performance pattern of the Del22q11.2 group was similar to the TD group in the symbolic comparison task, and both of these groups had better performance than the LCA group. The impairment of ANS acuity observed in individuals with Del22q11.2 cannot be explained by deficits in general processing speed because no significant group differences were found in the simple reaction time task. These results suggest that lower acuity of the ANS should be added to the behavioral phenotype of Del22q11.2. The absence of impaired ANS acuity in the LCA group is consistent with the hypothesis that number sense is a relatively specific and autonomous domain. Investigations of low ANS acuity in mathematics learning difficulties and Del22q11.2 should be intensified...


Subject(s)
Humans , Learning Disabilities , DiGeorge Syndrome/etiology , Neuropsychology
6.
Psychol. neurosci. (Impr.) ; 7(2): 151-158, Jan.-June 2014. tab
Article in English | Index Psychology - journals | ID: psi-62656

ABSTRACT

A magnitude comparison deficit has been frequently observed in velocardiofacial syndrome (Del22q11.2). We hypothesized that this deficit extends to impairments in the acuity of the approximate number system (ANS). Three groups of children aged 8-14 years were investigated: Del22q11.2 children (n = 12), low cognitive ability children (LCA; n = 12), and matched typically developing children (TD; n = 28). All children were assessed with a simple reaction time task and symbolic and nonsymbolic number comparison tasks. To estimate the acuity of the ANS, the Weber fraction (w) was calculated from the nonsymbolic comparison task. The Del22q11.2 group exhibited a significantly higher w compared with the other groups. Importantly, no significant differences were found in w between the TD and LCA groups. The performance pattern of the Del22q11.2 group was similar to the TD group in the symbolic comparison task, and both of these groups had better performance than the LCA group. The impairment of ANS acuity observed in individuals with Del22q11.2 cannot be explained by deficits in general processing speed because no significant group differences were found in the simple reaction time task. These results suggest that lower acuity of the ANS should be added to the behavioral phenotype of Del22q11.2. The absence of impaired ANS acuity in the LCA group is consistent with the hypothesis that number sense is a relatively specific and autonomous domain. Investigations of low ANS acuity in mathematics learning difficulties and Del22q11.2 should be intensified.(AU)


Subject(s)
Learning Disabilities , DiGeorge Syndrome/etiology , S1983-32882014005000004 , Neuropsychology
7.
Res Dev Disabil ; 33(3): 819-24, 2012.
Article in English | MEDLINE | ID: mdl-22230237

ABSTRACT

The objective of this study was to investigate the psycholinguistic abilities of children with Williams syndrome (WS) and typically developing children using the Illinois Test of Psycholinguistic Abilities (ITPA). Performance on the ITPA was analysed in a group with WS (N=20, mean age=8.5 years, SD=1.62) and two typically developing groups, matched in mental (MA, N=20, mean age=4.92 years, SD=1.14) and chronological age (CA, N=19, mean age=8.35 years, SD=3.07). Overall, within-group analyses showed that individuals with WS displayed higher scalar scores on the visual reception and visual association subtests. When groups were compared, we observed inferior performance of the WS group on all ITPA subtests when compared with typically developing groups. Moreover, an interaction between reception and group was found, only the WS group demonstrated superior performance on the visual reception subtest when compared to the auditory reception subtest. Evidence from this study offers relevant contributions to the development of educational intervention programs for children with WS.


Subject(s)
Aptitude , Auditory Perceptual Disorders/diagnosis , Language Development Disorders/diagnosis , Perceptual Disorders/diagnosis , Psycholinguistics , Visual Perception , Williams Syndrome/diagnosis , Auditory Perceptual Disorders/psychology , Child , Child, Preschool , Female , Humans , Language Development Disorders/psychology , Language Tests/statistics & numerical data , Male , Neuropsychological Tests/statistics & numerical data , Perceptual Disorders/psychology , Psychometrics/statistics & numerical data , Reference Values , Reproducibility of Results , Wechsler Scales , Williams Syndrome/psychology
8.
Am J Med Genet A ; 152A(12): 3164-72, 2010 Dec.
Article in English | MEDLINE | ID: mdl-21108403

ABSTRACT

Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or cessation of the sound precludes the flow of speech. About 5% of individuals in the general population have a stuttering problem, and about 80% of the affected children recover naturally. The causal factors of stuttering remain uncertain in most cases; studies suggest that genetic factors are responsible for 70% of the variance in liability for stuttering, whereas the remaining 30% is due to environmental effects supporting a complex cause of the disorder. The use of high-resolution genome wide array comparative genomic hybridization has proven to be a powerful strategy to narrow down candidate regions for complex disorders. We report on a case with a complex set of speech and language difficulties including stuttering who presented with a 10 Mb deletion of chromosome region 7q33-35 causing the deletion of several genes and the disruption of CNTNAP2 by deleting the first three exons of the gene. CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering.


Subject(s)
Chromosomes, Human, Pair 7 , Membrane Proteins/genetics , Nerve Tissue Proteins/genetics , Stuttering/genetics , Brazil , Child , Child Development Disorders, Pervasive/genetics , Humans , Language Disorders/genetics , Male , Nuclear Family
9.
Am J Med Genet A ; 149A(5): 1041-5, 2009 May.
Article in English | MEDLINE | ID: mdl-19396836

ABSTRACT

We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a "new" unique pattern MCA/MR syndrome.


Subject(s)
Agenesis of Corpus Callosum , Developmental Disabilities/diagnosis , Hair Diseases/diagnosis , Nevus/diagnosis , Pilomatrixoma/diagnosis , Skin Neoplasms/diagnosis , Ventricular Dysfunction, Left/congenital , Ventricular Dysfunction, Left/diagnostic imaging , Child , Developmental Disabilities/genetics , Hair Diseases/genetics , Humans , Nevus/genetics , Pilomatrixoma/genetics , Skin Neoplasms/genetics , Syndrome , Ultrasonography , Ventricular Dysfunction, Left/genetics
11.
Am J Med Genet A ; 143A(24): 3137-9, 2007 Dec 15.
Article in English | MEDLINE | ID: mdl-17907158

ABSTRACT

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance.


Subject(s)
Craniofacial Abnormalities/genetics , Intellectual Disability/genetics , Language , Learning Disabilities/genetics , Syndrome , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Adolescent , Adult , Facies , Family Health , Female , Foot/pathology , Genes, Dominant , Hand/pathology , Humans , Marfan Syndrome/genetics , Nose/pathology
SELECTION OF CITATIONS
SEARCH DETAIL
...