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Doro D. Rossetti A. Battistella P. A. Fardin P. Moro F. 《The Italian Journal of Neurological Sciences》1988,9(5):509-513
We report a case of bilateral optic nerve hypoplasia in a patient with pupillary light-near dissociation, spastic paraparesis
with deep hyperreflexia, mild distal hypotrophy especially of lower limbs, bilateral pes cavus and signs of motor peripheral
neuropathy. Other associated signs were rhinolalia, hypotrophy and fasciculations of the tongue and cardiomyopathy. We differentiate
the condition from a number of hereditary ataxias and paraplegias. The clinical features of Strümpell-Lorrain spastic paraplegia
and amyotrophic lateral sclerosis seem to resemble most closely that of our patient.
Sommario Viene riportato un caso di un paziente di 12 anni che presenta l'associazione di ipoplasia bilaterale del nervo ottico con areflessia pupillare alla luce, paraparesi spastica, ipotrofia muscolare distale prevalente agli arti inferiori, piede cavo bilaterale e neuropatia periferica prevalentemente motoria; inoltre sono presenti rinolalia, ipotrofia con fascicolazioni della lingua e cardiopatia. Viene discusso il possible inquadramento di tale sindrome nell'ambito delle forme degenerative con paraparesi: vengono richiamati in particolare i caratteri differenziali dalla paraparesi spastica familiare di Strümpell e dalla sclerosi laterale amiotrofica.相似文献
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Tomoki Maeda Mutsumi Akaishi Miki Shimizu Kazuhito Sekiguchi Aki Anan Tomoyuki Takano Kazuhide Imai So-ichi Suenobu Seigo Korematsu Tatsuro Izumi 《Brain & development》2009,31(9):694-701
We subclassified schizencephaly based on the association with optic nerve hypoplasia (ONH) and the absence of the septum pellucidum (ASP), and then characterized their clinical presentation and prognosis.The subjects of our study consisted of 10 cases with a mean age at the final evaluation of 10 years 3 months (range, 7 months to 25 years). The subclassification of schizencephaly consisted of the septo-optic dysplasia (SOD) group (n = 3), with ONH and ASP; the optic hypoplasia (OHP) group (n = 2), with ONH and without ASP, and; the classical group (n = 5), without ONH. The subjects with an open-lip cleft in the SOD and the classical group showed hydrocephalus, but those in the OHP group did not. The SOD and the OHP group displayed severe psychomotor retardation regardless of the cleft morphology, but in the classical group, the subjects with an open-lip cleft or with diffuse cortical dysplasia were severely retarded. The SOD and the OHP group displayed intractable epilepsy. In contrast, all subjects in the classical group showed good control of epilepsy.The results of our investigation show that the subclassification of schizencephaly based on the association with ONH and ASP is useful. The SOD group means early fetal brain injury which results in extended cortical dysplasia while the OHP group means severe destructive brain injury which results in cerebro-cerebellar disruption. 相似文献
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Paramala J. Santosh William P. L. Mandy Kaija Puura Miia Kaartinen Richard Warrington David H. Skuse 《European child & adolescent psychiatry》2009,18(8):521-524
We aimed to construct and validate a shortened form of the developmental, diagnostic and dimensional interview (3Di), a parent
report interview for assessing and diagnosing autistic spectrum disorders (ASDs). Data from 879 children and young people
were used. In half of the sample (n = 440) reliability analysis was used to identify 3Di items that best measured each dimension of the autism triad. This informed
the construction of a shortened (53 item) 3Di, which was then validated on subjects not used in the reliability analysis (n = 439). This involved comparison with scores from the original 3Di algorithm and, in a subsample (n = 29), with the autism diagnostic interview-revised (ADI-R). Agreement of the new shortened 3Di with the 3Di’s original algorithm
was excellent in both dimensional and categorical terms. Agreement on caseness (27 out of 29) with the ADI-R was also strong.
The new 3Di short version is less than half as long as the original version and outputs very similar scores. It will be useful
to clinicians and researchers for obtaining a dimensional autism assessment in less than 45 minutes.
相似文献
William P. L. MandyEmail: |
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BackgroundAlthough parents with a child with autism spectrum disorder (ASD) have usually been identified as having the “broader autism phenotype”, empirical research on the differences in autistic-like characteristics between parents with and without ASD children has yielded inconsistent results.MethodThis survey of the autistic traits of parents and children was conducted in 119 parents with ASD children and 108 parents with typically developing (TD) children. Parents’ autistic traits were quantified using the Autism-Spectrum Quotient and children’s autistic traits were quantified using the Autism Spectrum Quotient—Children’s Version.ResultsThe autistic traits of ASD children were significantly higher than those of the TD children; however, autistic traits were similar between parents in the two groups. Furthermore, the correlations of autistic traits between parents and children were only significant for the TD group and not for the ASD group.ConclusionsThe current findings indicate that the relationship of autistic traits between parents and children exists in the TD group, and that the Autism-Spectrum Quotient may be used for parents as a screening aid to identify children who should be further screened for autistic traits. 相似文献
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BackgroundThe study compared retinal nerve fiber layer (RNFL) thickness, macular thickness, and macular volume of children with autism spectrum disorder (ASD) to those of healthy control group and correlated the RNFL thickness with symptom severity in children with ASD.MethodForty children between the ages of 7 and 12 with normal intelligence levels and who were diagnosed with ASD as per DSM-5 were included in the ASD group. The control group consisted of healthy children, who were matched with subjects in the ASD group in terms of age and gender. The Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS) were used to evaluate the severity of the disease in the cases diagnosed with ASD. The RNFL, macular thickness, and macular volume of all participants were measured optical coherence tomography (OCT).ResultsThe temporal, temporal superior, nasal superior, temporal inferior, and global RNFL thicknesses were significantly lower in the ASD group than in the control group. There was no correlation between the RNFL thickness and ASD symptom severity. The macular thickness and volume were not significantly different between the groups.ConclusionOur data suggest that lower RNFL thickness may relate to atypical brain development in the ASD, and this can be measured in the retina. 相似文献
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The prevalence of autistic spectrum disorder in children surveyed in a tertiary care epilepsy clinic 总被引:2,自引:0,他引:2
Clarke DF Roberts W Daraksan M Dupuis A McCabe J Wood H Snead OC Weiss SK 《Epilepsia》2005,46(12):1970-1977
It is well documented that children with autistic spectrum disorder (ASD) have an increased prevalence of seizures; however, studies have not been done to evaluate the prevalence of ASD in children with epilepsy. This comorbidity is important to define as early diagnosis and intervention in some children with ASD has been shown to improve outcome. METHOD: Children with epilepsy seen in a tertiary care epilepsy clinic were evaluated using validated autism screening questionnaires (ASQ). In addition, questions about sleep-related disorders, behavior, seizure characteristics, antiepileptic agents, and body mass index (BMI) were requested. An attempt was then made to determine if there was a correlation between the factors identified and ASD. RESULTS: Of the 107 questionnaires returned, 97 ASQ's were properly completed and used in this study. Approximately 32% of children fit the ASQ criteria for having ASD. Most children had not been previously diagnosed. Worst behavior and daytime sleepiness was seen in those at greater risk (p < 0.01). Seizures also occurred earlier (approximately 2 years) in children at risk of having ASD. CONCLUSION: Though confirmatory diagnostic evaluations are needed, this questionnaire-based study suggests that children with epilepsy are at greater risk of having ASD, and illustrates the need for more clinical vigilance. Behavioral difficulties and daytime sleepiness identified in these children could potentially affect their ability to learn. It is of interest that the age of seizure onset identified in those at greater risk corresponds with the approximate age of regression identified in some children with ASD. 相似文献
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Summary Agenesis of the cerebellar vermis with fusion of the dentate nuclei and cerebellar hemispheres (rhombencephalosynapsis) is a rare cerebral malformation. We report the case of a 7-h-old girl whose mother had taken the drug phencyclidine during the first 6 weeks of pregnancy. Absence of the septum pellucidum, hypoplasia of the commissural system, optic nerves, chiasm and tracts, moderate hydrocephalus, and agenesis of the posterior lobe of the pituitary were also found. Extracranial congenital anomalies involved the cardiovascular, respiratory, urinary, and musculoskeletal systems. Death was secondary to severe respiratory distress and bradycardia. The literature concerning this rare form of cerebellar malformation is reviewed. 相似文献
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OBJECTIVE: Assess the prevalence of autistic traits (AST) in pediatric obsessive-compulsive disorder (OCD) and relate them to OCD co-morbidity and compare them with published normative data. METHODS: Pediatric patients with obsessive-compulsive disorder (n=109) according to the DSM-IV were studied using parent ratings of the Autistic Symptom/Syndrome Questionnaire to assess AST symptoms as a continuous rather than categorical trait. The KSADS, a semi-structured psychiatric interview, was used for the psychiatric diagnostic evaluation. Also, the Children's Yale-Brown Obsessive-Compulsive Scale was used to assess OCD severity and other clinical features. RESULTS: AST was common among our patients. Symptom scores were highest in cases with co-morbid Autistic Spectrum Disorders, but cases with other co-morbidities as tics/Tourette and attention/behavioral disorders also scored higher. All sub-groups, including OCD without these co-morbidities scored higher than the Swedish normative group. Using ANOVA, co-morbid ASD and tics/Tourette (plus a term for gender by tic interaction indicating that girls with tics scored high, otherwise low) and pathological doubt contributed (R2=.41) to the AST-traits, while OCD severity and co-morbid anxiety- and depressive disorders did not. CONCLUSION: AST traits are prevalent in OCD and seem to be intricately associated with the co-morbidities as well as the OCD syndrome itself. The findings might have implication for our nosological understanding of OCD which currently is discussed. 相似文献
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目的探讨家兔视神经损伤后谷氨酸浓度变化对视网膜的兴奋毒性及其作用机制。方法 40只健康雄性日本大耳白家兔随机分成2组,A组35只,B组5只。A组家兔左眼为实验制备视神经损伤模型,右眼为对照眼。B组家兔双眼同时制备视神经损伤模型。分别于第1、3、7、14及28d随机处死A组7只家兔及B组1只家兔,检测家兔实验眼和对照眼视网膜谷氨酸浓度,并观察B组家兔视网膜病理形态学改变。结果家兔视神经损伤后视网膜内谷氨酸浓度逐渐升高,3d达到高峰,14d时家兔实验眼视网膜谷氨酸浓度仍高于对照眼(p<0.05),28d时其视网膜谷氨酸浓度无统计学差异(p>0.05)。家兔视网膜病理形态学观察:视神经损伤后1d,神经节细胞排列紊乱;3~7d,视网膜节细胞大量空泡化;7d~14d,视网膜厚度变薄,神经节细胞减少;14d后视网膜各层细胞改变逐步趋于稳定。结论家兔视神经损伤后,视网膜谷氨酸浓度升高是视网膜神经节细胞继发损伤的原因之一。 相似文献
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C.F. Anhoque L. Biccas-Neto S.C.A. Domingues A.L. Teixeira R.B. Domingues 《Clinical neurology and neurosurgery》2013
Objective
To investigate cognitive impairment, to assess optical nerve axonal loss, and to determinate whether there is correlation between optical nerve axonal loss and cognition impairment in Clinically Isolated Syndrome (CIS).Methods
Fifteen CIS patients and 15 controls were submitted to Wechsler memory scale, Rey Auditory Verbal Learning, Rey Complex Figure, Paced Auditory Serial Addition, Digit Span, verbal fluency, stroop color, D2, and Digit Symbol tests. CIS patients were evaluated by optical coherence tomography (OCT) (23 eyes).Results
CIS patients had worse performance in Paced Auditory Serial Addition Test (PASAT) 2 seconds (P = 0.009) and fluency tests (P = 0.0038). Optical nerve axonal loss was found more frequently in eyes with previous optic neuritis (ON) (85.7%) than in those without previous ON (21.7%) (P = 0.0146). There were no significant correlations between optical nerve axonal loss and cognitive findings.Conclusions
CIS patients had worse cognitive performance than controls. OCT can detect axonal loss resulting from optical neuritis and subclinical axonal loss in eyes without previous optical neuritis. Optical nerve axonal loss was not correlated with cognition. 相似文献12.
Communication with visual signals, like facial expression, is important in early social development, but the question if these signals are necessary for typical social development remains to be addressed. The potential impact on social development of being born with no or very low levels of vision is therefore of high theoretical and clinical interest. The current study investigated event-related potential responses to basic social stimuli in a rare group of school-aged children with congenital visual disorders of the anterior visual system (globe of the eye, retina, anterior optic nerve). Early-latency event-related potential responses showed no difference between the VI and control group, suggesting similar initial auditory processing. However, the mean amplitude over central and right frontal channels between 280 and 320 ms was reduced in response to own-name stimuli, but not control stimuli, in children with VI suggesting differences in social processing. Children with VI also showed an increased rate of autistic-related behaviours, pragmatic language deficits, as well as peer relationship and emotional problems on standard parent questionnaires. These findings suggest that vision may be necessary for the typical development of social processing across modalities. 相似文献
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BackgroundAutistic people tend to report poorer Quality of Life (QOL) than comparison groups, though some studies do report more optimistic findings. Higher autistic traits are also related to poorer QOL. However, the role of alexithymia in this relationship has not been explored.MethodA total of 163 participants (N = 53 autistic and N = 111 comparison) consented to take part; however, 30 participants were excluded due to missing data (who did not differ from those who were retained on age, gender, education, employment, or living status), leaving a final sample of 133 (N = 42 Autistic and 91 Comparison participants). Demographic information (including age, gender) was collected, alongside self-report measures of autistic traits, mental health, alexithymia, and QOL. We estimated regression models based on pre-registered analysis, and we conducted exploratory network analyses.ResultsAlexithymic traits did not predict QOL when controlling for covariates. Depression significantly predicted Physical, Psychological, and Social QOL. When examining the impact of just alexithymic traits and autistic traits, both were significantly associated with Physical and Psychological QOL. For participants with a low depression score, the correlation between alexithymia and QOL was strong; suggesting that depression occludes the association between alexithymia and QOL. Network analyses suggested that depression and anxiety exert direct effects on Physical and Psychological QOL, whereas alexithymia scores may influence Physical QOL via autistic traits.ConclusionIn sum, depression is a pervasive negative predictor of multiple QOL domains. The role of alexithymia in predicting QOL dimensionally and categorically was not ruled out, given our exploratory analyses, we suggest that interventions which target alexithymia may positively impact QOL for those who score low on depressive symptoms. 相似文献
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Rachel L. Goldin Johnny L. Matson Kim Tureck Paige E. Cervantes Jina Jang 《Research in developmental disabilities》2013,34(9):2669-2675
The present study was conducted to compare rates of tantrum behaviors in children with autism spectrum disorders (ASD) (n = 255), attention-deficit/hyperactivity disorder (ADHD) (n = 40) and children with comorbid ASD and ADHD (n = 47). Parents/guardians of children aged 3–16 years were surveyed about their children's behaviors using the Autism Spectrum Disorders-Comorbidity for Children (ASD-C-C). Children with ADHD alone differed from children with ASD alone and children with comorbid ASD and ADHD on rates of tantrum behaviors. Examination of individual tantrum behavior items indicated that children with comorbid ASD and ADHD have a more similar symptom presentation to children with ASD than children with ADHD. This study adds to the literature on the presentation of common co-occurring behaviors of ASD when there is comorbid ADHD. The implications of these findings may aid in the assessment and treatment of tantrum behaviors in children with comorbid ASD and ADHD. 相似文献
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Roberto Jose Diaz Suzanne Laughlin Gary Nicolin J. Raymond Buncic Eric Bouffet Ute Bartels 《Child's nervous system》2008,24(6):707-712
Introduction Some children with optic pathway gliomas present with proptosis related to intraorbital tumor extension. The radiological
assessment of chemotherapeutic response in these patients can be complicated by irregular tumor shape and lack of relation
between tumor volume and cosmetic effect.
Method We propose that proptosis measurements and derivation of a proptosis index can be a useful adjunct to the measurement of tumor
volume in the radiological assessment of chemotherapeutic response. The proptosis index was derived as the ratio of the difference
in proptosis between eyes postchemotherapy to that prechemotherapy. A series of six patients with proptosis and the diagnosis
of an optic nerve tumor from an optic pathway glioma registry demonstrate by case example the correlation between the proptosis
index and the clinical and radiographic response to chemotherapy.
Conclusions We have found that a proptosis index <1 correlates with a chemotherapeutic maintained response and an index >1 correlates
with progressive disease. 相似文献
16.
《Research in autism spectrum disorders》2014,8(8):951-957
The present study examined the use of the Behavioral Assessment System for Children, Second Edition (BASC-2) in discerning 151 children and adolescents 12–16 years of age with autism spectrum disorder (ASD) from atypically and typically developing children and adolescents. Scores on the BASC-2 composites (i.e., externalizing behaviors, internalizing behaviors, behavior symptom index [BSI], adaptive behaviors) and subscales (i.e., hyperactivity, aggression, conduct problems, anxiety, depression, somatization, atypicality, withdrawal, attention, adaptability, social skills, leadership, activities of daily living, functional communication) were compared between children and adolescents with ASD, atypical development, and typical development. With the exception of aggression, somatization, and internalizing behaviors, participants with ASD were significantly more impaired than typically developing participants in all other composites and subscales. In comparison to atypically developing participants, the scores of participants with ASD evinced more impairment for BSI and its subscales, with the exception of attention, and the adaptive behavior composite and its subscales, with the exception of adaptability. Scores on the externalizing behaviors and internalizing behaviors composites and their subscales, with the exception of anxiety, were not significantly different. Research and clinical implications are discussed. 相似文献
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《Research in autism spectrum disorders》2014,8(2):82-92
The purpose of this study was to explore how atypical reactions to sensory stimuli contribute to the relation between restricted and repetitive behaviors and anxiety in children with autism spectrum disorders (ASD). In Study 1, factor analysis of restricted and repetitive behaviors was carried out using the Repetitive Behavior Questionnaire-2 (RBQ-2), completed by 120 parents of 2- to 17-year-olds with ASD. Two subtypes resulted: repetitive sensory and motor behaviors, and insistence on sameness, accounting for 40% of the variance. This two-factor solution was retained even when the sensory items of the RBQ-2 were removed. In Study 2, 49 of the same parents also completed the Spence Anxiety Scales and the Sensory Profile. The insistence on sameness factor was significantly associated with anxiety while the repetitive motor behaviors factor was not. The relation between anxiety and insistence on sameness was mediated by sensory avoiding and to a lesser extent by sensory sensitivity. Implications for arousal explanations of ASD and for clinical practice are discussed. 相似文献
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Enhanced visual detail processing in subjects with pervasive developmental disorder (PDD) has been related to impairments in feature integration. The functional integrity of two types of neuronal connections involved in visual feature integration, namely horizontal and feedbackward connections, were tested. Sixteen children with PDD and 17 age- and IQ-matched control children (mean age 13.3 years) were included. In a texture segregation task the difference in ERP response to homogeneous and checkered visual stimuli was determined. Additionally, in a contour integration task subjects had to point out a contour consisting of colinearly aligned Gabor signals in backgrounds increasing in noise. Children with PDD showed a normal performance on the contour integration task, suggesting that neurons in the primary visual cortex of children with PDD can effectively integrate the activity of local detectors that process different aspects of the same object information by making use of long-range lateral connections. The amplitude of ERP activity related to texture segregation was also not different between the PDD and control groups, indicating functional visual feedback mechanisms between V1 and higher order areas in subjects with PDD. However, a difference in latency of texture-segmentation related activity between the groups was noted. This effect did not reach significance, which could be due to the small N of the study. Therefore, the data need replication in a study with larger samples before more definitive conclusions can be drawn. 相似文献
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Malin Larsson Bernard Weiss Staffan Janson Jan Sundell Carl-Gustav Bornehag 《Neurotoxicology》2009,30(5):822
Potential contributions of environmental chemicals and conditions to the etiology of Autism Spectrum Disorders are the subject of considerable current research and speculation. The present paper describes the results of a study undertaken as part of a larger project devoted to the connection between properties of the indoor environment and asthma and allergy in young Swedish children. The larger project, The Dampness in Buildings and Health (DBH) Study, began in the year 2000 with a questionnaire distributed to parents of all children 1–6 years of age in one Swedish county (DBH-I). A second, follow-up questionnaire (DBH-III) was distributed in 2005. The original survey collected information about the child, the family situation, practices such as smoking, allergic symptoms, type of residence, moisture-related problems, and type of flooring material, which included polyvinyl chloride (PVC). The 2005 survey, based on the same children, now 6–8 years of age, also asked if, during the intervening period, the child had been diagnosed with Autism, Asperger's syndrome, or Tourette's syndrome. From a total of 4779 eligible children, 72 (60 boys, 12 girls) were identified with parentally reported autism spectrum disorder. A random sample of 10 such families confirmed that the diagnoses had been made by medical professionals, in accordance with the Swedish system for monitoring children's health. An analysis of the associations between indoor environmental variables in 2000 as well as other background factors and the ASD diagnosis indicated five statistically significant variables: (1) maternal smoking; (2) male sex; (3) economic problems in the family; (4) condensation on windows, a proxy for low ventilation rate in the home; (5) PVC flooring, especially in the parents’ bedroom. In addition, airway symptoms of wheezing and physician-diagnosed asthma in the baseline investigation (2000) were associated with ASD 5 years later. Results from the second phase of the DBH-study (DBH-II) indicate PVC flooring to be one important source of airborne phthalates indoors, and that asthma and allergy prevalence are associated with phthalate concentrations in settled dust in the children's bedroom. Because these associations are among the few linking ASD with environmental variables, they warrant further and more extensive exploration. 相似文献
20.
Matthew J. Konst Johnny L. Matson Nicole Turygin 《Research in autism spectrum disorders》2013,7(11):1339-1345
The current study investigated the presentation of tantrum behaviors in individuals with an autism spectrum disorder (ASD) diagnosis with and without a comorbid diagnosis of attention deficit hyperactivity disorder (ADHD). Participants included 347 children ranging in age from 2 to 18 years old. Diagnostic categories in the current study were based upon clinical diagnosis. The severity of ASD symptomology was measured by the Autism Spectrum Disorder-Diagnostic Child Version (ASD-DC). The presence and severity of tantrum behaviors were measured by the Tantrum behavior subscale of the Autism Spectrum Disorders-Comorbidity for Children (ASD-CC). The influence of diagnosis and ASD symptomology had upon the expression of tantrum behaviors were examined, controlling for participant age. Initial analysis revealed significant differences in the expression of tantrum behavior between the ASD, ADHD and ASD/ADHD groups. However, age did not have a significant influence on the exhibition of tantrum behaviors. Follow-up analyses demonstrated that those individuals diagnosed with an ASD and a comorbid ADHD diagnosis exhibited significantly greater tantrum behavior. Post hoc analyses identified a significant positive correlation between increases in ASD symptomology and elevations of the severity of tantrum behaviors for each group. The observed correlation for the ADHD group was found to be significantly greater than the ASD group. Correlations for individual item responses of the ASD-CC were also computed and discussed for each diagnostic group. 相似文献