Temperament and vagal tone in boys with fragile X syndrome

Physiological hyperarousal, an elevated state of physiological arousal and poor modulation, has been postulated to be a significant source of behavior problems in children with fragile X syndrome (FXS). Temperament has been associated with behavior problems and may also reflect biological reactivity. Young boys with FXS display poorly modulated and low levels of vagal tone (Roberts, Dev Psychobiol 2001;39:107-123) and high activity, poor attention, low adaptability, poor persistence, and low intensity when compared with a reference sample of typically developing (Hatton, Dev Med Child Neurol 1991;41:625-632). In this study, we integrated physiological indices of vagal tone with temperament ratings and compared a sample of 29 young boys with FXS to 31 typically developing boys matched on chronological age and ethnicity. Boys with FXS were more active, less adaptable, and less persistent than the comparison group. Boys with FXS also showed lower baseline levels and less suppression of vagal tone in response to changing task demands. A relationship between baseline vagal tone and persistence was shown across both groups. However, group differences in temperament dimensions did not appear to be mediated or moderated by vagal tone.     

Developmental and behavioural disturbances in 13 boys with fragile X syndrome

Developmental and behavioural aspects were studied in 13 boys aged 2.6–12.5 years from three families with the fragile X syndrome.The following observations were made. (1) Moderate to severe retardation was present in all boys; non-verbal IQs ranged between 25 and 67 (mean 46±14); IQ and age were negatively correlated (P<0.01). (2) Language development was grossly delayed in all boys: most had severe articulation problems. (3) Imitative and symbolic play (e.g. doll play) were strikingly retarded as compared to abstract play (e.g. block design). (4) Autistic features such as no use of eye contact, stereotyped movements and echolalia were found in 9/13 boys; the same number showed aggressive behaviour. (5) General activity was reduced during the 1st year of life; most boys became very hyperactive during the second year; and short attention span and increased distractability were observed in all. (6) Motor development was mildly delayed; all boys were clumsy and moderately hypotonic.The fragile X syndrome ought to be considered in retarded boys with a dissociated developmental pattern, in particular a striking delay in language and play development, and autistic features.     

Learning disabilities and attentional problems in boys with the fragile X syndrome

The fragile X syndrome is a relatively common form of mental retardation that tends to affect boys more severely than girls. The syndrome is associated with a fragile site at q27 on the X chromosome and with physical features including large or prominent ears and macro-orchidism. Four boys had physical and cytogenetic features of the fragile X syndrome. However, the IQ scores of these patients extended into the normal range. All four patients demonstrated similar learning difficulties that included hyperactivity, visuomotor incoordination, language deficits, and academic delays in mathematics. The fragile X syndrome should be considered in the differential diagnosis of learning disabled children.     

Developmental trajectories and correlates of sensory processing in young boys with fragile X syndrome

BACKGROUND AND PURPOSE: No longitudinal study on sensory processing in children with fragile X syndrome (FXS) exists. This study examined developmental trajectories and correlates of sensory processing from infancy through preschool years in 13 boys with FXS. METHOD: Participants were assessed using observational and parent-report measures 2-6 times between 9 and 54 months of age. RESULTS: Over time, an increasing proportion of boys displayed sensory processing that differed significantly from test norms. Observational measures were more sensitive than parent-reports early in infancy. Age and developmental quotient significantly predicted levels of hyporesponsiveness; there was a trend for hyperresponsiveness to increase with age. Baseline physiological and biological measures were not predictive. CONCLUSIONS: Sensory processing problems are observable early and grow increasingly problematic from infancy through the preschool ages. Early identification and intervention may attenuate long-term difficulties for children with FXS.     

Clinical findings in middle lobe syndrome and other processes of pulmonary shrinkage in children (atelectasis syndrome).

Processes of atelectasis and pulmonary shrinkage are not confined to the right middle lobe. This fact is illustrated by case reports of five of our nine such patients. All cases shared common clinical and morphologic similarities: congenital malformations of the bronchial skeleton, compression, and chronic inflammation produce comparable pulmonary morphology that always includes atelectasis. Atelectasic processes of longer duration require surgical resection; this led to cures in all the authors' patients.     

Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome

Sixteen children and adolescents with a firm clinical diagnosis of Williams syndrome were investigated with the chromosome fluorescence in situ hybridisation (FISH) technique employing the elastin gene probe. In each case there was a fluorescent signal on one chromosome 7 homologue only, indicating elastin gene deletion. No deletion was demonstrated in another child in whom an earlier diagnosis of Williams syndrome was judged doubtful at review. Firm clinical diagnosis correlates with elastin gene deletion in 16/16 cases of Williams syndrome and detection of such hemizygosity by FISH constitutes a useful confirmatory diagnostic test.     

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

This study was designed to explore the behavioral phenotype of autism in a group of young children with fragile X syndrome (FXS). Twenty-four children with FXS, ages 21 to 48 months, were compared with two well-matched groups: 27 children with autism (AD) and 23 children with other developmental delays (DD), on two standardized autism instruments, as well as on measures of development and adaptive behavior. Two FXS subgroups emerged. One subgroup (n = 16) did not meet study criteria for autism. Their profiles on the autism instruments and the developmental instruments were virtually identical to the other DD group. The other FXS subgroup (n = 8, or 33% of the total FXS group) met study criteria for autism. Their profiles on the autism instruments were virtually identical to the group with autism. The finding of two FXS subgroups raises a hypothesis of additional genetic influences in the FXS autism group, warranting further genetic studies.     

Cerebro-hepato-renal syndrome of zellweger: Clinical symptoms and relevant laboratory findings in 16 patients

The clinical features of 16 patients suffering from cerebro-hepato-renal syndrome are presented. Five of these children lived beyond 2 years. Four of them are still alive. The increase of pipecolic acid in serum and cerebrospinal fluid (CSF), the abnormality of the bile acids and the increased excretion of p-OH-phenyl lactate were a consistent finding. The concentration of pipecolic acid in urine was not always distinctly elevated. A loading test with DL-pipecolic acid was always abnormal.     

Developmental screening and detection of developmental delays in infants and toddlers with fragile X syndrome

Three developmental screening tests (the Denver-II, Battelle Developmental Inventory Screening Test, and Early Language Milestone Scale-2) were administered to 18 infants and toddlers (13 boys and 5 girls) with confirmed diagnoses of fragile X syndrome as part of a comprehensive developmental assessment at 9, 12, and 18 months of age. The Denver-II identified delays for 10 of 11 boys at 9 months of age and the Denver-II and the Early Language Milestone Scale-2 identified delays in 100% of the boys at 12 and 18 months. The Battelle Developmental Inventory Screening Test identified delays in 75% of the children at 12 and 18 months. When compared with more comprehensive developmental tests (Mullen Scales of Early Learning and Receptive-Expressive Emergent Language Scale-2), the screening tests concurred at least 76% of the time at the 12- and 18-month assessments. These results indicate that developmental delays could be detected in most children with fragile X syndrome through routine developmental screening by the age of 9 to 12 months.     

Acute megakaryoblastic leukemia in Down's syndrome: report of a case and review of cytogenetic findings

A case of a child with trisomy 21 and acute megakaryoblastic leukemia (AMBL) is reported. Histological examination of the bone marrow showed progressive fibrosis and replacement with megakaryoblasts. The diagnosis was confirmed by platelet peroxidase reaction and immunofluorescent staining with anti-factor VIII. Serial cytogenetic studies using banding techniques at various stages during the course of the disease (preleukemia, leukemia, remission, and relapse) showed several chromosomal abnormalities (unbalanced translocation between chromosomes 1 and 4 leading to trisomy 1q, trisomy 7q, monosomy 7p, and a reciprocal translocation between chromosomes 10 and 16). AMBL in childhood is probably more common than previously reported. Any association between AMBL and a particular cytogenetic abnormality must await further cytogenetic studies, specifically those employing banding techniques.     

Clinical and biochemical manifestations of syndrome X in obese children

The aim of this study was to investigate whether the clinical and metabolic characteristics of syndrome X had their onset in childhood in otherwise healthy but obese children of Greek origin. A group of 25 obese children and 18 age- and sex matched control subjects, aged 6–14 years, underwent an oral glucose tolerance test (OGTT), assessed for determination of plasma glucose and insulin levels. Insulin sensitivity and insulin resistance were estimated by mathematical models using calculations obtained during the OGTT. Body mass index (BMI) and blood pressure were measured, as well as serum lipoprotein and aminotransferase concentrations, after an overnight fast. The obese children had significantly higher blood pressure (systolic and diastolic) (P<0.001), triglycerides, lipoprotein(a) and alanine aminotransferase levels (P<0.05) and significantly lower HDL-cholesterol and apolipoprotein A-1 values (P<0.001). Plasma glucose levels during the OGTT were similar in both obese children and control subjects, while plasma insulin levels were significantly higher in obese children (P<0.01). In mathematical models, mean values of insulin sensitivity predictors: metabolic clearance rate and insulin sensitivity index were significantly lower in obese children (P<0.001). Predictors of beta-cell function: insulin resistance index and insulin release index were significantly higher in obese children (P<0.001). Conclusion:childhood adiposity was associated with all traditional components of syndrome X. The early recognition of these factors as predisposing elements of the appearance of metabolic syndrome requires the development of strategies to manage excess weight gain during childhood, with the ultimate goal being the prevention of type 2 diabetes and cardiovascular disease in adulthood.Abbreviations ApoA-1 apolipoprotein A-1 - ApoB apolipoprotein B - ALT alanine aminotransferase - AST aspartate aminotransferase - BMI body mass index - HDL-C HDL-cholesterol - HOMA-IR insulin resistance index - HOMA-Secr insulin release index - ISI insulin sensitivity index - LDL-C LDL-cholesterol - Lp(a) lipoprotein (a) - MCR metabolic clearance rate of glucose - OGTT oral glucose tolerance test - TC total cholesterol - TG triglycerides     

16例Rasmussen综合征的临床特征和治疗

目的总结Rasmussen综合征（RS）的临床特征和治疗方法。方法对16例RS患儿的临床资料进行分析,并对患儿的预后进行随访。结果起病年龄1岁11个月～11岁6个月。均以癫癎发作为首发症状,主要的发作形式均为部分运动性发作。16例均进展为持续性部分性癫癎。13例就诊时已有偏瘫,出现固定偏瘫的时间为起病后2个月～3年。14例出现不同程度的认知障碍。EEG背景双侧不对称性慢波;发作间期均有异常放电,其中一侧半球放电11例,双侧半球放电5例;16例均记录到发作期EEG,其中5例发作与EEG放电不完全同步。16例头颅MRI均显示一侧大脑半球或局部皮层萎缩,出现皮层萎缩时的病程为5个月～3年4个月。16例对抗癫癎药疗效均不佳,大剂量丙种球蛋白或皮质类固醇可使部分患儿癫癎发作短期减少。6例行功能性半球切除者,4例发作停止,偏瘫及认知功能逐渐改善。结论RS的主要临床特征为难治性部分性癫癎、进行性偏瘫和认知倒退。EEG特点为背景双侧不对称慢波,发作间期放电可为一侧性或双侧性,临床发作同期与EEG放电可无明确相关性。头颅影像学特点为逐渐进展的一侧半球萎缩。该病药物治疗难以控制癫癎发作,功能性半球切除可改善发作并防止进一步脑功能恶化。     

Clinical and immunohistochemical findings in a case of neonatal Marfan syndrome

A newborn girl with extreme cardiomegaly discovered by fetal ultrasound after 34 gestational weeks is presented. The girl was delivered through a Caesarean section. After birth, multiple skeletal stigmata and generalized cardiac involvement with abnormal valves and dilated great arteries suggested Marfan syndrome. The girl died at the age of 10 h. The postmortem examinations showed cardiovascular lesions typical of Marfan syndrome. Immunofluorescence studies from cultured fibroblasts of the patient showed decreased amounts of immunostained fibrous material, supporting the clinical diagnosis of a severe Marfan syndrome.