RESUMO
BACKGROUND: An uneven neurocognitive profile is a hallmark of autism spectrum disorder (ASD). Studies focusing on the visual memory performance in ASD have shown controversial results. We investigated visual memory and sustained attention in youths with ASD and typically developing (TD) youths. METHOD: We recruited 143 pairs of youths with ASD (males 93.7%; mean age 13.1, s.d. 3.5 years) and age- and sex-matched TD youths. The ASD group consisted of 67 youths with autistic disorder (autism) and 76 with Asperger's disorder (AS) based on the DSM-IV criteria. They were assessed using the Cambridge Neuropsychological Test Automated Battery involving the visual memory [spatial recognition memory (SRM), delayed matching to sample (DMS), paired associates learning (PAL)] and sustained attention (rapid visual information processing; RVP). RESULTS: Youths with ASD performed significantly worse than TD youths on most of the tasks; the significance disappeared in the superior intelligence quotient (IQ) subgroup. The response latency on the tasks did not differ between the ASD and TD groups. Age had significant main effects on SRM, DMS, RVP and part of PAL tasks and had an interaction with diagnosis in DMS and RVP performance. There was no significant difference between autism and AS on visual tasks. CONCLUSIONS: Our findings implied that youths with ASD had a wide range of visual memory and sustained attention impairment that was moderated by age and IQ, which supports temporal and frontal lobe dysfunction in ASD. The lack of difference between autism and AS implies that visual memory and sustained attention cannot distinguish these two ASD subtypes, which supports DSM-5 ASD criteria.
Assuntos
Síndrome de Asperger/fisiopatologia , Atenção , Transtorno do Espectro Autista/fisiopatologia , Memória , Percepção Visual , Adolescente , Adulto , Transtorno do Espectro Autista/classificação , Estudos de Casos e Controles , Criança , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Adulto JovemRESUMO
Autism is a childhood-onset neurodevelopmental disorder with a strong genetic basis in its etiology. Conventional karyotype analysis has revealed that chromosomal structural aberrations such as translocation, inversion, deletion, and duplication play a role in causing autism spectrum disorders (ASD). In addition, recent array-based comparative genomic hybridization (array CGH) studies discovered that submicroscopic deletion and duplication of DNA segments also contributed significantly to the genetic etiology of ASD. Together, these studies indicate that genomic rearrangement is an important genetic mechanism of ASD. Using karyotyping analysis and array CGH technology, we identified a subtelomeric deletion of approximately 6.8 Mb at 4q35.1-35.2 and a terminal deletion of approximately 2.4 Mb at 8p23.2-pter in two autistic boys, respectively. These two deletions were further validated using fluorescent in situ hybridization and real-time quantitative polymerase chain reaction, and their breakpoints were delineated using high-resolution array CGH. The 4q deletion is a rare de novo mutation, while the transmission of 8p deletion is unknown, because the father of the patient was unavailable for study. These two deletions are rare mutations and were not found in the additional 282 patients with ASD and in the 300 control subjects in our population. The identification of these two chromosomal deletions contribute to our understanding of the genetic basis of ASD, and the haploinsufficiency of several genes located at the deleted regions of chromosome 8p and 4q may contribute to the clinical phenotypes of autism.
Assuntos
Transtorno Autístico/genética , Deleção de Sequência , Criança , Transtornos Globais do Desenvolvimento Infantil/genética , Cromossomos Humanos Par 4/genética , Cromossomos Humanos Par 8/genética , Hibridização Genômica Comparativa , Humanos , Hibridização in Situ Fluorescente , Lactente , MasculinoRESUMO
Medial antebrachial cutaneous (MABC) neuropathy in the forearm is rare. We report here a case of this neuropathy after surgery for panniculitis excision. Examination revealed hypesthesia over left medial forearm at MABC nerve territory. Tineal's sign at the operation site of left medial arm was positive. Sensory nerve conduction studies showed reduced sensory nerve action potential amplitude which is compatible with an axonal neuropathy and interside amplitude ratio of 2.35. In the present case report, the sensory nerve conduction study is a useful tool in confirming MABC neuropathy.
Assuntos
Condução Nervosa , Paniculite/cirurgia , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/etiologia , Complicações Pós-Operatórias/diagnóstico , Adolescente , Feminino , Antebraço/inervação , Humanos , Hipestesia/diagnóstico , Hipestesia/etiologia , Neurônios Aferentes/fisiologiaRESUMO
OBJECTIVE: To estimate the prevalence of primary nocturnal enuresis (PNE) in Taiwanese children, and to examine factors associated with PNE and its severity. SUBJECTS AND METHODS: In all, 1683 questionnaires were sent to parents of schoolchildren aged 6-11 years randomly selected from three primary schools in Taipei City, Taiwan. The questionnaire was designed to collect information about the prevalence of and factors associated with PNE. RESULTS: Of the questionnaires distributed, 1176 (70%) were completed. PNE was reported in 92 (8%) of the children; nine (10%) of these children were wet > 3 nights per week. Factors associated with PNE included male gender, deep sleep, divorced parents or separated family and a positive family history of enuresis. Of these factors, only those children with deep sleep were more likely to have > 3 wet nights per week. CONCLUSION: The prevalence of and factors associated with PNE in Taiwan are similar to those reported in Western countries, but the percentage of children with severe enuresis is lower than in Sweden, France and Turkey. Deep sleepers are more likely to have severe enuresis.
Assuntos
Enurese/epidemiologia , Análise de Variância , Criança , Enurese/etiologia , Feminino , Humanos , Masculino , Prevalência , Fatores de Risco , Taiwan/epidemiologiaRESUMO
BACKGROUND AND PURPOSE: Mental retardation is a major sequela of delayed treatment for congenital hypothyroidism; congenital hypothyroidism can be treated early if detected with neonatal screening. We evaluated the intellectual outcomes of 62 patients with congenital hypothyroidism detected by neonatal screening at a major teaching hospital in northern Taiwan. The effects of thyroid pathology, age at the initiation of treatment, socioeconomic status, and severity of hypothyroidism on intellectual outcome were also analyzed. METHODS: All patients had euthyroid status at the time of intelligence testing. The Chinese Fourth Revision of the Binet-Simon Scales was used to evaluate the patients' intelligence between the ages of 3 and 6 years. RESULTS: The mean intelligence quotient (IQ) score was 102 +/- 18. Only four of the 62 patients were mentally retarded. Patients with lower initial serum thyroxine concentrations (T4; < 2 micrograms/dL) at the time of diagnosis of congenital hypothyroidism had significantly lower IQs (95 +/- 19, n = 26) than those with higher initial T4 concentrations (106 +/- 16, n = 36; p < 0.05). Patients with fewer than three ossification centers had lower IQs (91 +/- 20, n = 12) than those with three or more (104 +/- 17, n = 36; p < 0.05). Significantly lower IQs were also found in patients with a smaller femoral epiphysis area (< 0.1 cm2) (92 +/- 20, n = 15) than in those with larger epiphyses (106 +/- 15, n = 21; p < 0.05). The type of pathology (ectopia, athyrosis, dyshormonogenesis), age at the start of treatment (before or after 30 days of age), and socioeconomic status did not significantly affect the intellectual outcome. CONCLUSIONS: Our results indicate that intellectual outcome in Taiwanese patients with congenital hypothyroidism has been improved by neonatal screening and that the severity of hypothyroidism at diagnosis is the most important prognostic factor affecting intellectual outcome in these patients.
Assuntos
Hipotireoidismo Congênito , Inteligência , Triagem Neonatal , Fatores Etários , Desenvolvimento Ósseo , Criança , Pré-Escolar , Humanos , Hipotireoidismo/psicologia , Lactente , Recém-Nascido , Glândula Tireoide/patologia , Tiroxina/sangueRESUMO
Ten cases of tetrahydrobiopterin (BH4) deficiency were identified in 1,337,490 newborns screened in a Chinese population in Taiwan. The high incidence of BH4 deficiency in the Taiwanese population may be explained by a founder effect, since all of the patients revealed 6-pyruvoyltetrahydropterin synthase gene mutations, and grouping N52S and P87S mutations together constituted 88.9% of the disease alleles. BH4 supplementation with restriction of high-protein foods gave control of plasma phenylalanine within normal range, and levodopa itself prevented seizure. However, the average intelligence quotient (IQ) score of these patients was only 76 +/- 14 (56-98). Statistically, the age of starting medication, including 5-hydroxytryptophan (5-HTP), was inversely correlated to IQ scores of these patients. We suggest the combination of BH4, levodopa and 5-HTP as the standard protocol to commence the treatment of BH4 deficiency as early as possible, although prenatal brain damage could have existed.
Assuntos
Biopterinas/análogos & derivados , Mutação , Fenilcetonúrias/enzimologia , Fenilcetonúrias/genética , Fósforo-Oxigênio Liases/genética , 5-Hidroxitriptofano/uso terapêutico , Sequência de Bases , Biopterinas/deficiência , Biopterinas/uso terapêutico , Análise Mutacional de DNA , Efeito Fundador , Humanos , Recém-Nascido , Inteligência , Levodopa/uso terapêutico , Triagem Neonatal , Fenilalanina/administração & dosagem , Fenilalanina/sangue , Fenilcetonúrias/psicologia , Fenilcetonúrias/terapia , Taiwan , Resultado do TratamentoRESUMO
Mental retardation is a major sequela of delayed treatment of congenital hypothyroidism. In this study, we investigated the intellectual outcomes of patients with congenital hypothyroidism diagnosed before a nationwide screening project started. Eighty-two patients had intelligence tests done while in the euthyroid state. Their mean intelligence quotient (IQ) was 78 +/- 21 (+/- SD) (n = 79). The mean verbal IQ was significantly higher than the mean full-scale IQ. The mean IQs of both ectopic thyroid (84 +/- 21, n = 28) and dyshormonogenic patients (85 +/- 14, n = 18) were significantly higher than that of patients with athyrosis (64 +/- 18, n = 19) (p < 0.05). Patients who were treated before 3 months of age had significantly higher mean IQs (90 +/- 16, n = 16) than those treated after 3 months (75 +/- 21, n = 63) (p < 0.01). Our results confirm that both patients with ectopic thyroids and those with dyshormonogenesis have better intellectual outcomes than athyrotic patients do, and that early treatment improves the intellectual outcome of patients with congenital hypothyroidism.
Assuntos
Hipotireoidismo Congênito , Deficiência Intelectual/epidemiologia , Adolescente , Fatores Etários , Análise de Variância , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Hipotireoidismo/complicações , Hipotireoidismo/terapia , Lactente , Recém-Nascido , Deficiência Intelectual/etiologia , Deficiência Intelectual/prevenção & controle , Inteligência , Masculino , Triagem NeonatalRESUMO
We developed a zygosity questionnaire for use in young twins and assessed its validity using the results of DNA diagnosis. The participants were divided into two groups: 105 pairs of adolescent twins (12-16 years old), 47 pairs of child twins (2-12 years old), and their respective parents. The DNA diagnosis of zygosity was made with polymarker polymerase chain reaction (PCR) amplification of five loci, using the AmpliType PM PCR Amplification and Typing Kit; this method has an accuracy rate of 99.0%. A parsimonious model for each sample was established using stepwise logistic regression analysis of the 20 items of the questionnaire. The total accuracy rate of the model was satisfactory for both parental reports (three items) and self-reports (three items) of adolescent twins (97.4 and 95.6%, respectively), while that for parental reports on child twins (two items) was less satisfactory (92.5%). For adolescent twins, if DNA diagnostic workups were limited to those with discordant reports either from themselves or from their parents, the accuracy rate increased to 100% for parental reports and 98% for self-reports.
Assuntos
Reação em Cadeia da Polimerase , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adolescente , Viés , Criança , Pré-Escolar , Feminino , Marcadores Genéticos/genética , Humanos , Masculino , Inquéritos e QuestionáriosRESUMO
A 9 1/2-year-old Taiwanese boy with Prader-Willi syndrome had the following characteristics: difficulties with sucking, feeding and hypotonia during infancy, a dysmorphic face (triangular mouth, high arched palate, almond-shaped eyes and large head circumference with a relatively narrow bifrontal diameter), borderline intelligence, hypogonadism, hyperphagia, skin picking and truncal obesity. The boy experienced two hypersomnia episodes, at age 8 and 9 years, with both episodes lasting for 10 days. During the two episodes, he was found to have an exacerbated case of hyperphagia, pica, poor emotional control, stereotyped speech and agitated behavior upon awakening. After each episode, the boy had complete remission. Our findings show that the two episodes are compatible with Kleine-Levin syndrome. The relationship between the two syndromes, the Prader-Willi syndrome and the Kleine-Levin syndrome, deserves further study.
Assuntos
Distúrbios do Sono por Sonolência Excessiva/complicações , Síndrome de Kleine-Levin/complicações , Síndrome de Prader-Willi/complicações , Criança , Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 15 , Humanos , Hipotálamo/anormalidades , Síndrome de Kleine-Levin/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Hipófise/anormalidades , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genéticaRESUMO
Separation anxiety disorder is characterized by severe and exceeding anxiety and fear when a child is facing separation with attachment objects. More over, it affected the child in language, emotional and social interest and development. These children usually brought to physician's attention due to refusal to go to school, social withdraw or multiple somatic complaints with attachment behavior wanted to be nearby or closed to the attachment objects. A child's early attachment relationship and previous separation experience play a major role in the formation of separation anxiety disorder. This report presents a psychoanalytically-oriented play therapy for a 2-year-8-month-old boy in 17 months period total of 54 sessions. According to the main themes in each session the process can be divided into 4 stages, namely establishing therapeutic relationship, expressing repressed emotions, management of transference, attachment and conflict in therapy, and self growth and termination. The formulation of this case and management were discussed.
Assuntos
Transtornos de Ansiedade/terapia , Ludoterapia , Pré-Escolar , Humanos , MasculinoRESUMO
A woman developed a severe generalized polyneuropathy in acute lithium intoxication. Nerve conduction studies suggested an axonal neuropathy. Her peripheral nerve problem became manifest after treatment had already started; therefore, a high serum lithium level is not considered to be the only factor for the development of a severe polyneuropathy in lithium intoxication.
Assuntos
Transtorno Bipolar/tratamento farmacológico , Lítio/intoxicação , Polineuropatias/induzido quimicamente , Adulto , Quimioterapia Combinada , Potenciais Somatossensoriais Evocados/efeitos dos fármacos , Feminino , Humanos , Lítio/uso terapêutico , Carbonato de Lítio , Condução Nervosa/efeitos dos fármacos , Nervos Periféricos/efeitos dos fármacos , Tempo de Reação/efeitos dos fármacosRESUMO
Studies were conducted to determine whether interactions occur among dietary lysine, arginine and monovalent minerals in rainbow trout. In one experiment, rainbow trout fingerlings were fed diets containing three levels of lysine (2.4, 3.1 and 3.8 g per 100 g diet), two levels of arginine (1.7 and 2.5 g per 100 g diet) and two mixtures of Na(+) K(+) and Cl in a 3×2×2 factorial design. The mixtures varied in the proportions of cations to anions such that Cl equalled the sum of Na(+) and K(+) (cations - anions = 0 mEq/kg diet) in one mixture and exceeded the sum of Na(+) and K(+) (cations - anions = -200 mEq/kg diet) in the second mixture. Growth and efficiency of feed conversion were not affected by dietary lysine and arginine in fish fed diets containing - 200 mEq/kg balance, but when fish were fed diets containing a 0 mEq/kg balance, 3.8% lysine and a combination of 3.1% lysine and 2.5% arginine depressed both measures of response. Trout receiving the 0 mEq/kg cation-anion balance had significantly higher free histidine concentrations and lower free lysine concentrations in muscle and higher hepatic arginase activity (P≤0.01) than those receiving -200 mEq/kg. In another experiment, trout were fed diets containing three levels of K(+) (21, 191 and 360 mEq/kg), two levels of Na(+) (21 and 191 mEq/kg) and two levels of Cl(-) (179 and 347 mEq/kg) in a 3×2×2 factorial design. Growth and efficiency of feed conversion were depressed and hepatosomatic index increased with higher levels of dietary K(+) (P≤0.01), Na(+) (P≤0.05) and Cl (P≤0.01), with significant K(+) x Cl(+) (P≤0.01) and K(+) x Na(+) x Cl (P≤0.05) interactions. Increasing dietary K(+) resulted in increased levels of muscle free histidine and decreased levels of muscle free lysine and arginine (P≤0.01), while increasing dietary Cl increased muscle free lysine, the effect of which was dependent on dietary potassium (K(+) x Cl(-), P≤0.01). It is concluded that dietary levels of K(+), Na(+) and Cl(-), irrespective of overall cation-anion balance of these minerals, affects growth rate, efficiency of feed utilization and the metabolism of basic amino acids in tissues of trout. Excess lysine causes depressed growth and efficiency of feed utilization. These effects were due to a lysine toxicity rather than a lysine-arginine antagonism, as they were not prevented by supplemental dietary arginine.
RESUMO
Studies were conducted to determine whether rainbow trout fingerlings possess the ability to synthesize arginine via the urea cycle. Several urea cycle enzymes were detected in trout tissues. An experiment was conducted to determine whether the enzymes increase in response to starvation or in response to dietary protein level (0, 30, 40, 50% protein). Although some effects were observed, they did not appear to be consistent with the function of the urea cycle as a mechanism of detoxifying ammonia in the fish. The activities of kidney arginase and liver and muscle carbamoyl phosphate synthetase (CPS) were higher (P less than 0.05) when protein was omitted from the diet (P less than 0.05) than when it was present but were unaffected by protein level otherwise. The activities of liver arginase and kidney and muscle CPS and ornithine transcarbamoylase (OTC) were higher (P less than 0.05) in starved fish than in fish that received adequate levels of protein. Liver CPS and OTC were lower in starved fish than in fish fed 30% protein. L-[l-14C]ornithine hydrochloride and L-[carbamoyl-14C]citrulline, injected intraperitoneally, were incorporated into tissue arginine, a finding consistent with arginine biosynthesis via the urea cycle. When one-half of dietary arginine was replaced by equimolar amounts of glutamic acid, ornithine or citrulline, glutamic acid markedly reduced growth (P less than 0.05), whereas growth was depressed only slightly by ornithine (P less than 0.05) and not depressed by citrulline (P greater than 0.05). We conclude that trout have a urea cycle that provides for potential arginine biosynthesis.