Reflex sympathetic dystrophy in childhood: A case report

A case report is presented of a 15-year-old girl with reflex sympathetic dystrophy (RSD). She was referred to hospital because of left upper limb pain. Her left upper limb was cold, edematous and blue with a limited active range of movement. The serum concentration of noradrenaline was lower on the painful side than on the healthy side, and neurotropin, which has an antinociceptive effect to hyperalgesia, was clearly effective. Early diagnosis and management is essential in the treatment of RSD and administration of neurotropin is a useful and non-invasive treatment without severe adverse effects.     

Reflex sympathetic dystrophy in childhood

Reflex sympathetic dystrophy is characterized by constant burning pain and hyperesthesia in an extremity. Lower extremities are usually affected. Pain is accompanied by swelling, sweating, vasomotor instability and sometimes trophic changes. There may be a history of minor injury or not. Muscle spasms, myoclonus or focal dystonia may occur. Diffuse pain, loss of function and autonomic dysfunction are three main criteria suggested for diagnosis. Symptoms can last a few days to as long as a year. In this report we present a girl with multiple limb involvement of stage I RSD. The sympathetic skin responses were tested during a remission period. She had milder attacks with a recurrence rate of 4 per year in the following three years from onset.     

Reflex sympathetic dystrophy: an underreported syndrome in children?

Two cases of reflex sympathetic dystrophy are described in a 13-year-old and a 10-year-old girl. In the latter, symptoms occurred consecutively in the right leg, the left foot and the left hand. In contrast to the usual findings in adults, bone scintigraphy showed decreased radio-isotope uptake in the affected area during the early phase. An electromyography performed in the younger patient showed slower nerve conduction velocity in the affected limb. The younger girl improved following physical therapy and calcitonin injections, while the older patient favorably responded to sympathetic blockade.Abbreviations RSD reflex sympathetic dystrophy - ^99mTc MDP technetium-99m methylene-disphosphonate     

Duchenne's muscular dystrophy in monozygotic twins

The rare occurrence of Duchenne's muscular dystrophy (DMD) in a twin pair is documented. The observation of concordance for muscular dystrophy in the monozygotic (MZ) twin pair in an otherwise normal family helps to verify the genetic causation of sporadic, cases of the disease.     

Methylphenidate use in males with Duchenne muscular dystrophy and a comorbid attention-deficit hyperactivity disorder

Attention-deficit hyperactivity disorder (ADHD) is a common comorbidity in Duchenne muscular dystrophy (DMD). Until now, treatment with methylphenidate (MPH) has never been systematically assessed and described in this population. Our aim was to evaluate the effectiveness and safety of short acting MPH for learning problems in males with DMD and ADHD. Neuropsychological (cognition and behavior) and medical data of a sample of ten males (mean age = 8.1 years, range 6.3–9.8) with DMD and an ADHD diagnosis was retrospectively analyzed at baseline (T0; without MPH), short-term follow-up (T1; with MPH; mean interval T0-T1 = 8.3 months, range 4.3–15.6), and long-term follow-up (T2; mean interval T1-T2 = 23.1 months, range 2.6–77.7). An initial MPH dose of 5 mg/day was given on school mornings, with an increase of 2.5–5 mg/week depending on individual tolerance and treatment response, until a sufficiently effective dose was reached (range 0.2–0.6 mg/kg/day). At T1, results demonstrated an improvement in attention (i.e. concentration, impulsivity, and distractibility) in four patients. Suboptimal effects were reported in four patients, and no effects in two patients. At T2, seven patients showed considerable improvement in attention. No major side effects were reported. Overall, our data show that short acting MPH can be clinically effective for learning problems in males with DMD and ADHD, with regular cardiac follow-up, and close monitoring of side effects and neuropsychological effects. Furthermore, this underscores the importance of the use of validated cognitive and behavioral measurement tools with adequate sensitivity to objectively evaluate the effect of MPH.     

An 11-year-old girl with reflex sympathetic dystrophy successfully treated by thoracoscopic sympathectomy

Abstract We report on an 11-year-old girl with reflex sympathetic dystrophy (RSD) complaining of severe pain in her right upper extremity. Oral administration of narcotics or non-steroid anti-inflammatory drugs gave no relief in pain. Thoracoscopic electrocauterization of the thoracic sympathetic ganglion at the level of T3 was performed 3 months after the start of symptoms, and brought complete resolution of pain.     

Focal grey matter heterotopias in monozygotic twins with developmental language disorder

We describe 9-year-old monozygotic male twins with a developmental language disorder of the phonologic-syntactic type and learning difficulties. High-resolution MRI revealed bilateral parieto-temporal grey matter heterotopias in both twins, on the left more than on the right, and more pronounced in the more affected twin. This suggests a causal relationship between the heterotopias and the neuropsychological findings in this twin pair. Conclusion Neuronal migration defects and ensuing focal heterotopias may be causally related to developmental language disorders. Received: 17 September 1997 / Accepted: 2 March 1998     

Clinical profile and outcome of conversion disorder in children in a tertiary hospital of north India

The clinical profile, commonly involved precipitating factors, comorbid conditions, treatment options and outcome of conversion disorder in 40 children in a tertiary level hospital in North India were studied, retrospectively. Majority of the patients were from rural India. Most common presenting symptom was psychogenic non-epileptic seizures; depression and anxiety were among the commonest comorbid conditions. Precipitating factors were predominantly scholastic problems. Treatment option included either psychotherapy only or combination of psychotherapy and pharmacotherapy. No significant difference was found in terms of outcome between the in-patient and out-patient treatment groups. This observation could be cost effective for developing countries like India, where the resources are very limited.     

Normative childhood repetitive routines and obsessive compulsive symptomatology in 6-year-old twins

Background:  To investigate the association between normative repetitive routines of childhood and paediatric obsessive compulsive symptom syndrome (OCSS) and the extent to which it is genetically mediated.
Methods:  In a two-phase design a community sample of 4,662 6-year-old twin-pairs were sampled and 854 pairs were assessed in the second phase for normative repetitive routines using the Childhood Routines Inventory (CRI) and for OCSS by maternal-informant diagnostic interview. The OCSS phenotype was defined using standard diagnostic criteria for obsessive compulsive disorder, though regardless of impairment.
Results:  In the bivariate model, correlation between the CRI defined phenotype and the OCSS phenotype was estimated to be .40 (95% CI .27–.50), and this correlation was attributable wholly to additive genetic effects. The bivariate model also provided estimates of heritability of the two phenotypes separately: 55% (95% CI 80–89%) for the OCSS phenotype, with the remaining variance attributable mainly to non-shared environment, and 50% (95% CI 39–62%) for CRI assessed normative repetitive routines of childhood, with 36% of the remaining variance attributable to shared environment and 14% to non-shared.
Conclusions:  The moderate correlation between normative childhood repetitive routines and obsessive compulsive symptomatology, attributable to genetic factors, is consistent with the hypothesis that high levels of this trait in young children constitute a risk factor for the development of obsessive compulsive symptoms.     

Associated features of conversion disorder in Turkish adolescents

BACKGROUND: Conversion disorder in adolescents has not been studied extensively. A limited number of studies have focused on the features related to conversion disorder in adolescents. However, most of these studies used either retrospective data or did not have a control group that would allow comparison with the index cases. METHODS: Fifty-two Turkish adolescent patients diagnosed with conversion disorder were compared with a control group of 52 adolescents diagnosed with psychiatric disorders other than conversion disorder. The data were collected from the adolescent subjects and their mothers by various questionnaires, inventories, and psychiatric interviews. RESULTS: In the present study, pseudoseizures were the most common subtype of conversion disorder, followed by motor symptoms or deficits. Coming from a rural area, having a broken family, long-term separation from parents, problems related to communication and expression of emotions in the family, higher anxiety scores, conversion disorder in the proximal environment, and conversion disorder or other psychiatric disorders in the mother were significantly associated with conversion disorder in adolescents. CONCLUSIONS: The findings of the present study are in accordance with existing findings, and amplify the importance of problems in family functioning in the etiology of conversion disorder.     

儿童转换障碍研究进展

转换障碍(conversion disorder,CD),又称功能性神经症状紊乱(functional neurologic symptom dis-order,FNSD),是一种躯体形式障碍,指患者出现运动、感觉或认知改变,但却无与这些症状相关的神经系统疾病基础,并且此类患者往往有可疑致病的心理因素.CD隶属于癔症(...     

Congenital esophageal atresia with tracheoesophageal fistula occurring in both members of dizygotic twins

The authors present a pair of dizygotic twins with congenital esophageal atresia with tracheoesophageal fistula who underwent successful single-stage surgical repair. To our knowledge, this is the second set of dizygotic twins with this congenital anomaly in the literature. Accepted: 26 February 1997     

Congenital myotonic dystrophy in a national registry

AIM:

To describe the neonatal symptoms, developmental problems and chronic multisystem medical morbidities of congenital myotonic dystrophy (CDM) patients registered in the United States National Registry of Myotonic Dystrophy – a disease-specific, self-report program maintained since 2002. Comparisons with the Canadian Paediatric Surveillance Program for CDM are highlighted.

METHODS:

Genetically confirmed cases of CDM demonstrating symptoms in the first four weeks of life are described. Patients (or their caregivers) and physicians completed survey information at baseline and annually thereafter.

RESULTS:

Twenty-one patients were included (13 male and eight female), ranging from three to 24 years of age. The CTG trinucleotide repeat number ranged from 940 to 2100. Gastrointestinal, pneumonia and cardiac morbidities were most common. No deaths were noted.

CONCLUSIONS:

The United States Registry is a valuable resource for clinical research on patients with CDM; however, in contrast with the Canadian Paediatric Surveillance Program, some limitations are identified.     

Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease with death usually occurring because of respiratory failure. Signs of early respiratory insufficiency are usually first detectable in sleep. OBJECTIVE: To study the presentation of sleep-related breathing disorder (SRBD) in patients with DMD. METHOD: A retrospective review of patients with DMD attending a tertiary paediatric sleep disorder clinic over a 5-year period. Symptoms, lung function and polysomnographic indices were reviewed. RESULTS: A total of 34 patients with DMD were referred for respiratory assessment (1-15 years). Twenty-two (64%) reported sleep-related symptomatology. Forced vital capacity (FVC) was between 12 and 107% predicted (n = 29). Thirty-two progressed to have polysomnography of which 15 were normal studies (median age: 10 years) and 10 (31%) were diagnostic of obstructive sleep apnoea (OSA) (median age: 8 years). A total of 11 patients (32%) showed hypoventilation (median age: 13 years) during the 5-year period and non-invasive ventilation (NIV) was offered to them. The median FVC of this group was 27% predicted. There was a significant improvement in the apnoea/hypopnoea index (AHI) (mean difference = 11.31, 95% CI = 5.91-16.70, P = 0.001) following the institution of NIV. CONCLUSIONS: The prevalence of SRBD in DMD is significant. There is a bimodal presentation of SRBD, with OSA found in the first decade and hypoventilation more commonly seen at the beginning of the second decade. Polysomnography is recommended in children with symptoms of OSA, or at the stage of becoming wheelchair-bound. In patients with the early stages of respiratory failure, assessment with polysomnography-identified sleep hypoventilation and assisted in initiating NIV.     

单纯与共患对立违抗障碍的注意缺陷多动障碍儿童事件相关电位研究

目的探讨注意缺陷多动障碍(ADHD)儿童和ADHD共患对立违抗障碍(ODD)儿童与正常儿童相比对冲突的监测功能及解决能力的差异。方法对15例ADHD儿童、18例ADHD共患ODD儿童和18例正常儿童,进行事件相关电位(ERP)测试。结果 ERP显示,病例组(ADHD与ADHD共患ODD组)Go刺激的反应时高于正常对照组,正确率低于对照组,差异有统计学意义;Nogo刺激的反应时和正确率与正常对照组的差异无统计学意义。病例组Go-N2,Nogo-N2的潜伏期均大于对照组,差异有统计学意义,两病例组间无差别。病例组Nogo-P3b的波幅较正常组小,两病例组之间无差别。结论 ADHD儿童对冲突的监测能力延迟;对冲突的决策处理能力减弱,尤其是在对冲突处理的后半程。     

Generalist genes and learning disabilities: a multivariate genetic analysis of low performance in reading, mathematics, language and general cognitive ability in a sample of 8000 12-year-old twins

Background:  Our previous investigation found that the same genes influence poor reading and mathematics performance in 10-year-olds. Here we assess whether this finding extends to language and general cognitive disabilities, as well as replicating the earlier finding for reading and mathematics in an older and larger sample.
Methods:  Using a representative sample of 4000 pairs of 12-year-old twins from the UK Twins Early Development Study, we investigated the genetic and environmental overlap between internet-based batteries of language and general cognitive ability tests in addition to tests of reading and mathematics for the bottom 15% of the distribution using DeFries–Fulker extremes analysis. We compared these results to those for the entire distribution.
Results:  All four traits were highly correlated at the low extreme (average group phenotypic correlation = .58). and in the entire distribution (average phenotypic correlation = .59). Genetic correlations for the low extreme were consistently high (average = .67), and non-shared environmental correlations were modest (average = .23). These results are similar to those seen across the entire distribution (.68 and .23, respectively).
Conclusions:  The 'Generalist Genes Hypothesis' holds for language and general cognitive disabilities, as well as reading and mathematics disabilities. Genetic correlations were high, indicating a strong degree of overlap in genetic influences on these diverse traits. In contrast, non-shared environmental influences were largely specific to each trait, causing phenotypic differentiation of traits.     

Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sample

Background: High levels of clinical comorbidity have been reported between autistic spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD). This study takes an individual differences approach to determine the degree of phenotypic and aetiological overlap between autistic traits and ADHD behaviours in the general population. Methods: The Twins Early Development Study is a community sample born in England and Wales. Families with twins born in 1994–6 were invited to join; 6,771 families participated in the study when the twins were 8 years old. Parents completed the Childhood Asperger Syndrome Test and the Conners’ DSM‐IV subscales. Teacher data were also collected on a sub‐sample. High scores on the Conners’ subscales were used to identify possible ADHD cases. Potential ASD cases were interviewed using the Development and Well‐Being Assessment. Multivariate structural equation model‐fitting was employed, as well as DeFries Fulker extremes analysis and liability threshold model‐fitting. Results: Significant correlations were found between autistic and ADHD traits in the general population (.54 for parent data, .51 for teacher data). In the bivariate models, all genetic correlations were >.50, indicating a moderate degree of overlap in genetic influences on autistic and ADHD traits, both throughout the general population and at the quantitative extreme. This phenotypic and genetic overlap still held when sex, IQ and conduct problems were controlled for, for both parent and teacher data. There was also substantial overlap in suspected cases (41% of children who met criteria for an ASD had suspected ADHD; 22% with suspected ADHD met criteria for an ASD). Conclusions: These results suggest there are some common genetic influences operating across autistic traits and ADHD behaviours throughout normal variation and at the extreme. This is relevant for molecular genetic research, as well as for psychiatrists and psychologists, who may have assumed these two sets of behaviours are independent.     

Differences in CTG triplet repeat expansion in leukemic cells and normal lymphocytes from a 14-year-old female with congenital myotonic dystrophy

We describe a rare case of acute lymphoblastic leukemia in a 14-year-old female with congenital myotonic dystrophy manifested as mental retardation, extensive contractures of multiple joints of the lower extremities, and severe scoliosis. Because of the potential toxicity of chemotherapy and the patient's poor performance status, a modified chemotherapy regimen was administered. Analysis of the greatly expanded number of CTG repeats at the 3' untranslated region of DMPK gene showed that the number of repeats was 233 greater in leukemic cells than in normal lymphocytes; this elongation may have occurred during the cellular proliferation of leukemic clones.