Child Neurology

This study was performed with the aim of determining the diagnostic profile of newborns with hypotonia and of analyzing the usefulness of different procedures in the diagnostic process. One hundred thirty-eight hypotonic newborns were identified through the search of hospital records in a 10-year period: 121 (88%) had central hypotonia and 13 (9%) had peripheral hypotonia, whereas 4 (3%) remained unclassified. Analysis of the contribution of clinical data and results of investigations led to the construction of an algorithm, by which all cases in the group were diagnosed. Step 1, which included clinical data and results of examinations, solved 50% of all diagnosed cases. Neuroimaging techniques made up step 2 and contributed to the diagnosis in 13%. Step 3 was accomplished by a search through Oxford Medical Databases, which yielded the final diagnosis in 9%, whereas karyotyping and fluorescent in situ hybridization for Prader-Willi syndrome comprised step 4 and contributed to the di...

Congenital myasthenic syndromes (CMS) represent a heterogeneous group of disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysio-logic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, or in the postsynaptic region of the motor endplate. The disease proteins identified to date include the acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, and Na v 1.4, muscle-specific kinase, agrin, β2-laminin, downstream of tyrosine kinase 7, and glutamine-fructose-6-phosphate transaminase 1. Analysis of electrophysiologic and biochemical properties of mutant proteins expressed in heterologous systems have contributed crucially to defining the molecular consequences of the observed mutations and have resulted in improved therapy of most CMS.

We investigated anthropometric and fitness variables associated with areal bone mineral densities and broadband ultrasound attenuation in ambulatory children with cerebral palsy. Thirty-four children with cerebral palsy, aged 4-12 years, and 33 normal development children were collected. There were significant differences in femoral bone densities and calcaneus broadband ultrasound attenuation, but not in lumbar bone densities, between cerebral palsy and normal groups. Regression analysis revealed that different anthropometric and fitness variables were linked to bone densities of different skeletal regions in children with cerebral palsy (adjusted r 2 ¼ .41-.67). Growth variables were mainly related to femoral and lumbar bone densities, while muscular endurance was mainly related to femoral and calcaneus bone densities. These findings suggest multiple complex variables can contribute to bone density variations among different skeleton areas in these children. These data can allow clinicians to identifying early these children at risk for low bone density.

Type 1 diabetes mellitus is associated with cognitive changes, but the extent of cognition decline depends on age at onset, duration of diabetes and occurrence of attacks of hypoglycemia or ketoacidosis.This study was designed to assess cognitive function in a group of children with type I diabetes mellitus. Forty diabetic children, with mean age at onset of 8.59±2.71 year, were recruited from the Pediatric Department of Assuit University Hospital, Egypt. Forty healthy children matched for age, sex, socioeconomic states were chosen as controls for comparison. Cognition was assessed using the psychometric (Stanford Binet test) and electrophysiologic (Event Related Potentials) tests. Compared to control group, patients reported significant reduction in intelligent quotient, comprehension, abstract visual reasoning, quantitative reasoning, bead memory and total short memory testing for cognitive functions. Prolonged N1, P200, N2 and P300 latencies and reduced P300-N2 amplitude of event related potentials were also reported. Significant negative correlations were identified between in most studied cognitive functions and ketoacidosis or family history of diabetes mellitus. Type I diabetes mellitus and diabetes-related factors are important risks for cognitive deficits in children group of population.

The cardinal driver of cerebral palsy litigation is electronic fetal monitoring, which has continued unabated for 40 years. Electronic fetal monitoring, however, is based on 19th-century childbirth myths, a virtually nonexistent scientific foundation, and has a false positive rate exceeding 99%. It has not affected the incidence of cerebral palsy. Electronic fetal monitoring has, however, increased the cesarian section rate, with the expected increase in mortality and morbidity risks to mothers and babies alike. This article explains why electronic fetal monitoring remains endorsed as efficacious in the worlds' labor rooms and courtrooms despite being such a feeble medical modality. It also reviews the reasons professional organizations have failed to condemn the use of electronic fetal monitoring in courtrooms. The failures of tort reform, special cerebral palsy courts, and damage limits to stem the escalating litigation are discussed. Finally, the authors propose using a curre...

Residual hand use in functional tasks, extent of laterality, and right or left preference were studied in 145 2-to 24-year-old, postregression Australian subjects with Rett syndrome via parent questionnaire. Hand use was markedly restricted, more for complex than simple and for external (touching food and objects) than internal tasks (scratching, rubbing eyes), suggesting a deficit in cerebral control of external, goal-oriented hand use, which is perhaps genetically determined because there is significantly greater restriction of external tasks in subjects with demonstrated MECP2 mutations. Overall, 33.6% of patients were reported with a left-hand preference, 40.7% with a right-hand preference, and 25.7% with an equal hand preference. Extent of laterality was greater for external than internal and for complex than simple external tasks. Older subjects showed less functional hand use and possibly more overall laterality. However, their hand preference was similar to younger subjects. The anomalous pattern of hand preference in Rett syndrome may be linked to the primary apraxic deficit in this disorder rather than to late manifestation of laterality

Introduction: Although multiple neurologic manifestations associated with SARS-CoV-2 infection have been described in adults, there is little information about those presented in children. Here, we described neurologic manifestations associated with COVID-19 in the pediatric population. Methods: Retrospective case series report. We included patients younger than 18 years, admitted with confirmed SARS-CoV-2 infection and neurologic manifestations at our hospital in Santiago, Chile. Demographics, clinical presentations, laboratory results, radiologic and neurophysiological studies, treatment, and outcome features were described. Cases were described based on whether they presented with predominantly central or peripheral neurologic involvement. Results: Thirteen of 90 (14.4%) patients admitted with confirmed infection presented with new-onset neurologic symptoms and 4 patients showed epilepsy exacerbation. Neurologic manifestations ranged from mild (headache, muscle weakness, anosmia,...

Reading involves phonologic decoding, in which readers ``sound out'' a word; orthographic decoding, in which readers recognize a word visually, as in ``sight reading''; and comprehension. Because reading can involve multiple processes, dyslexia might be a heterogeneous disorder. This study investigated behavior and gross lobar anatomy in subtypes of dyslexic and control subjects. Subjects aged 18 to 25 years with identified reading problems and a group of healthy controls were given cognitive and behavioral tests and volumetric brain magnetic resonance imaging (MRI). Because atypical cerebral laterality has been proposed as a potential neural risk for dyslexia, dyslexic and control subjects were compared on anatomy of gross lobar regions. On asymmetry quotients, no significant differences were found between groups. Examination of the percentage of total brain volume of each structure revealed that control and dyslexic subjects were significantly different (P = .018)....

Hypertension is the single most important modifiable risk factor for adult stroke. Stroke mortality has significantly decreased over the last 5 decades; this decline has been mainly associated to improved blood pressure control. Though much less prevalent than in adults, stroke is an increasingly recognized cause of morbidity and mortality in children. Although hypertension has not been strongly identified as a risk factor in childhood stroke yet, there is preliminary evidence that suggests that elevated blood pressure may be associated with stroke in children. This review summarizes the literature that may link elevated blood pressure to the development of childhood ischemic and hemorrhagic stroke. The authors suggest that elevated blood pressure may be a significant risk factor that, alone or in combination with other multiple risk factors, leads to the development of stroke in childhood. It is therefore recommend that blood pressure be measured and assessed carefully in every chi...

The 6th AOCCN was held from the 5±8th of September 1999 at Bayview Beach Resort, Penang, in conjunction with the 21st Scienti®c Meeting of the Malaysian Paediatric Association (MPA). This was the ®rst time that Malaysia had played host to an international neurology meeting, let alone child neurology.

SYSTEMS 1 is a screen of general cognitive functioning, for school age children that entails cognitive manipulation and information skills. Our aim was to extend the test for four and five year old children at pre-school, to estimate theoretical starting points in typical cognitive profiles, that are critical in the early years. Participants (N = 1164, girls/boys, 50%) were four to 11 years old (mean 7.9, sd 2.2) at pre-schools and schools in diverse socio-economic areas of Sydney. Children's responses created the normative database, and the parameters were derived from curve estimation and regression procedures. Results suggest that cognitive screening is reliable and valid for younger and older children, and show a non-linear relation of children's test scores with age, that is characteristic of rapid change for younger children. The characteristic curve with the best fit to the data had a theoretical starting point before school age, at around 3 years of age. Findings are discussed in light of alternative models, and the clinical and educational applications.

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Paroxysmal tonic upgaze of childhood has been described as a benign distinctive syndrome of abnormal ocular movement, with or without concomitant ataxia. After the first observation of four children, a further 29 patients have been reported with a wide spectrum of neurologic abnormalities such as ataxia, unsteady of gait, learning disabilities and mental retardation at follow-up. Electroencephalograms were normal in all the subjects and magnetic resonance imaging showed deficient myelination in only one patient. Recently it has been suggested that paroxysmal tonic upgaze could be a heterogeneous syndrome, ranging from a simply age-dependent manifestation to a clinical appearance of a variety of disorders affecting the corticomesencephalic loop of vertical eye movement. Moreover, it also could be an early sign of more widespread neurologic dysfunction. We describe three patients who presented paroxysmal tonic upgaze; in one, ataxia was present; in the second child, ataxia and languag...

The ability to anticipate deficits would help with implementation of interventions for children affected by stroke. The pediatric stroke outcome measure (measure) measures neurological impairment after stroke, but there has been little research examining the relationship between the measure and functional outcomes. We hypothesized the Measure correlates with cognitive and behavioral outcomes. Thirty-six children with stroke were assessed with the Measure, and tested for cognitive ability, problem behavior, adaptive behavior, and social participation. We examined the correlation between the total Measure and outcomes and determined how subscale scores associated with outcomes. Higher total Measure scores correlated with poorer outcomes in cognitive ability, problem behaviors, adaptive behaviors, and social participation. Specific subscale scores correlated with poorer outcomes in multiple domains. The total Measure can be used to anticipate poor outcomes in multiple domains after str...

Neurologists have professional, ethical, and social obligations to ensure that expert witness testimony is reliable, objective, and truthful. In the past, an absence of professional regulatory oversight combined with immunity from civil litigation allowed the partisan expert to flourish. This is no longer the case. The expert witness unquestionably faces an increasingly perilous liability climate, and must be cognizant of the legal rules and procedures. The authors provide guidelines with risk management strategies for the neurologist serving as an expert witness.

The ketogenic diet, modified Atkins diet, and low-glycemicindex treatment have all emerged over the past decade as important therapeutic options for children with intractable epilepsy. Whereas only a decade ago the ketogenic diet was seen as an ''alternative'' treatment of last resort, it has become more frequently used throughout the world. The past year alone 2 randomized and controlled trials of the ketogenic diet were published, as well as the use of the ketogenic diet for new-onset epilepsy (infantile spasms), and a 26-member international consensus statement guiding optimal clinical management. There has been an equally dramatic increase of interest into mechanisms of action using various experimental models. Researchers are also highly interested in using diets for neurologic disorders other than epilepsy, including autism and brain tumors. This review will update child neurologists on the recent advances in the use of ketogenic diets.

Experiments in animals leave no doubt that androgens, including testosterone, produced by the testes in fetal and/or neonatal life act on the brain to induce sex differences in neural structure and function. In human beings, there is evidence supporting a female superiority in the ability to read nonverbal signals, specific language-related skills, and theory of mind. Even more striking than the sex differences seen in the typical population is the elevated occurrence of social and communicative difficulties in human males. One such condition, autism, occurs four times more frequently in boys than in girls. Recently, a novel theory known as the "extreme male brain" has been proposed. It suggests that the behaviors seen in autism are an exaggeration of typical sex differences and that exposure to high levels of prenatal testosterone might be a risk factor. In this article, we argue that prenatal and neonatal testosterone exposures are strong candidates for having a causal role in sexual dimorphism in human behavior, including social development, and as risk factors for conditions characterized by social impairments, particularly autism spectrum conditions.

Attention deficit hyperactivity disorder (ADHD) is the most common neurobehavioral condition of childhood. Consequences are multifaceted and include activity limitations in daily-living skills, academic challenges, diminished socialization skills, and motor difficulties. Poor handwriting performance is an example of an affected life skill that has been anecdotally observed by educators and clinicians for this population and can negatively impact academic performance and self-esteem. To guide health and educational service delivery needs, the authors reviewed the evidence in the literature on handwriting difficulties in children with ADHD. Existing evidence would suggest that children with ADHD have impaired handwriting performance, characterized by illegible written material and/or inappropriate speed of execution compared to children without ADHD. Studies with larger sample sizes using standardized measures of handwriting performance are needed to evaluate the prevalence of the problem and to better understand the nature of handwriting difficulties and their impact in this population.

Cerebral palsy, typically diagnosed in childhood, clearly continues into adulthood. This study describes the longterm medical, functional, educational, and psychosocial outcomes of people with cerebral palsy. Of the 203 people with cerebral palsy diagnosed and treated at the Child Development Center in Tel Aviv between 1975 and 1994, 163 (80%; age range 8-30 years, mean age 18.9 years, and median age 19 years) participated in a crosssectional telephone survey. Half the respondents have chronic health problems: 78% report they experience gross motor disability, of whom 22% are wheelchair users; 30% to 50% need help in various activities of daily living; 35% have mental retardation; 79% completed 12 years or more of schooling; 78% live with their parents; 25% have served in the army; 23% have a driver's license; and 23% work in competitive employment. The large majority is involved in varied leisure activities and report a high level of life satisfaction.

Европейският съюз (ЕС ) признава значението на туризма като социална и икономическа сила в Европа. Туризмът е сред топ приоритетите на ЕС за развитие , особено в периферните и послабо развитите региони , както и много общоевропейски политики са били одобрени в области, които са тясно свързани с туризма : опазване на околната среда , поток от хора , транспорт , инфраструктура, паспорти и визи , данъци и култура. В сферата на културното наследство , Договорът от Маастрихт от 1993 г. направи възможно за ЕС да се справи с общи културни въпроси, включително защита на наследство и насърчаване на културата . Повечето от усилията на Европейската комисия са насочени към сътрудничество между държавите-членки в областите на обмен на култури и трансгранично сътрудничество в областта на туризма наследство . Докато голяма част от законодателството на защитата на културата все още е влязло в сила и се поддържа на национално ниво в рамките на всяка страна , ЕС предприе някои програми, за да помогне набляга на общото наследство на цяла Европа. Един от найдобрите примери е европейска столица на културата програма , която започна през 1985 г. и определя един или повече градове в Европа като културна столица за една година. Определянето осигурява значително количество публичност за града в цяла Европа , както Общността е дадена платформа , върху която да може да се рекламира в цял свят. Положителните икономически и социални резултати на този дял се смята, че е от изключително значение и са взети под внимание, когато се отпуска от датата на възлагане . Други политики и инициативи са били приети от Европейската комисия , които се занимават пряко с наследство , включително износа на културни продукти и връщането на културни артефакти, които са били незаконно изнесени от дадена държава-членка . Дигитализация на културното наследство също е в ход , за да създадете електронни описи на европейските архиви, музеи и библиотеки , което ги прави достъпни за обществеността по време на почивка , образование , работа и съхранение за бъдещите поколения.

Congenital muscular torticollis is a common condition, but long-term neurodevelopmental follow-up is lacking. This study reports on neurodevelopmental outcome of 68 children, aged 7 to 9 years, with a history of congenital muscular torticollis, excluding children with torticollis due to other conditions. Thirty-eight children were examined for presence of neurodevelopmental disorders. Telephone interview data were available for an additional 30 children. Of those examined, 22/38 (57.9%) had or were at risk for a developmental disorder (attention-deficit hyperactivity disorder (ADHD), developmental coordination disorder, language impairment, autistic spectrum disorder) on at least 1 of the assessments administered, 23/38 (60.5%) had received developmental treatment during childhood. One child, based on a telephone interview, had a history of developmental treatment. Therefore, 30/68 (44.1%) children of the total sample demonstrated a developmental delay/disorder, currently (22/68) or previously (8/68). Our findings suggest congenital muscular torticollis to be a significant risk factor for later neurodevelopmental conditions with disorders presenting at different stages of development.

To determine if parents can successfully teach their children with autism spectrum disorders to become better sleepers, we piloted small group parent education workshops focused on behavioral sleep strategies. Workshops consisted of three 2-hour sessions conducted over consecutive weeks by 2 physicians. Curricula included establishing effective daytime and nighttime habits, initiating a bedtime routine, and optimizing parental interactions at bedtime and during night wakings. Baseline and treatment questionnaires and actigraphy were analyzed in 20 children, ages 3 to 10 years. Improvements after treatment were seen in the total scale and several insomnia-related subscales of the Children's Sleep Habits Questionnaire. Actigraphy documented reduced sleep latency in children presenting with sleep onset delay. Improvements were also noted in measures of sleep habits and daytime behavior. Brief parent-based behavioral sleep workshops in children with autism spectrum disorders appear effective in improving subjective and objective measures of sleep, sleep habits, and daytime behavior.

Developmental coordination disorder affects a relatively large proportion (5%-6%) of the childhood population. Severity of the disorder varies but there is a great need for therapeutic intervention. We propose a method for the training of manual actions in children with developmental coordination disorder. Our solution is achieved by applying haptic virtual reality technology to attack the difficulties that children with developmental coordination disorder evidence. Our results show that children with developmental coordination disorder are able to learn complex motor skills if proper training methods are employed. These findings conflict with reports of impaired motor learning in developmental coordination disorder because of underactivation of cerebellar and parietal networks.

Since the inception of the committee in early 2005, the members have held periodic conference calls to discuss the ways to establish practice guidelines for spinal muscular atrophy. Group leaders were tasked with conducting literature reviews in their particular care areas. A passwordprotected Web site was established during this time. References of literature reviews were uploaded to the Web site. Having concluded that there were not enough published data to allow drafting of an evidence-based practice parameter, the group explored the possibility of using a Delphi survey to achieve consensus among experts in the field.

Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutamate, EARS2. Magnetic resonance images show a characteristic leukoencephalopathy with thalamic and brain stem involvement. Here, we report a different clinical course of LTBL supported by typical MRI features in a Turkish patient who presented with a history of failure to walk. The EARS2 gene mutation analysis identified a c.322C>T transition, predicting a p.R108W change. This is the first reported early-onset mild type LTBL caused by a homozygous EARS2 mutation case in the literature.

This study attempted to elaborate the existence of a specific neurologic pattern observed in children who experienced neonatal hypoglycemia. Twenty-seven patients with seizure and history of neonatal hypoglycemia were compared with 28 children suffering from idiopathic occipital epilepsy. In both groups the most common type of seizure activities included eye movements and impaired consciousness responding well to treatment; however, ictal vomiting was more common in controls. Subjects were in epileptic and nonepileptic groups. Ninety percent of cases showed abnormal signal of the posterior head region on magnetic resonance imaging (MRI). A large number showed posterior abnormalities on electroencephalography (EEG). Visual loss with abnormal visual evoked potential was the most frequent visual finding. Fifty-five percent showed mild psychomotor retardation. This study demonstrates that neonatal hypoglycemia can induce a syndrome with a specific clinical spectrum consisting of epilepsy, visual disturbances, and psychomotor retardation. Hypoglycemia-occipital syndrome is an entity without statistically significant semiologic differences from the idiopathic type.

The specific aims of this study were to collect and analyze detailed symptom descriptions from patients with pediatric restless legs syndrome, ages 6 to 17 years, as well as assess symptom impact and the usefulness of drawings. Trained qualitative interviewers conducted face-to-face audio-recorded interviews of children and adolescents who met criteria for definite restless legs syndrome. Thirty-three patients in 3 age groups used 16 different categories of descriptors for restless legs sensations, with a mean of 3 or more categories used per patient in each age group. ''Need to move/kick,'' ''pain/hurts,'' ''uncomfortable/ cannot get comfortable,'' and ''like bugs or ants/crawling'' were the most common descriptors. Two-thirds reported daytime sensations, and nearly half had arm involvement. They described impact on sleep, cognitive function, and affect. Drawings provided useful diagnostic information. These detailed empirical data will be useful in clinical practice, as well as in the development of formal diagnostic tools and severity measures.

Prevalence of autism spectrum disorders has increased over recent years, however, little is known about the identification and management of autism spectrum disorder in Africa. This report summarizes a workshop on autism spectrum disorder in Africa under the auspices of the International Child Neurology Association and the African Child Neurology Association through guided presentations and working group reports, focusing on identification, diagnosis, management, and community support. A total of 47 delegates participated from 14 African countries. Although there was a huge variability in services across the countries represented, numbers of specialists assessing and managing autism spectrum disorder was small relative to populations served. Strategies were proposed to improve identification, diagnosis, management and support delivery for individuals with autism spectrum disorder across Africa in these culturally diverse, low-resource settings. Emphasis on raising public awareness t...