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Developmental Delay (developmental + delay)
Kinds of Developmental Delay Selected AbstractsNeural Correlates of Face and Object Recognition in Young Children with Autism Spectrum Disorder, Developmental Delay, and Typical DevelopmentCHILD DEVELOPMENT, Issue 3 2002Geraldine Dawson This study utilized electroencephalographic recordings to examine whether young children with autism spectrum disorder (ASD) have impaired face recognition ability. High-density brain event-related potentials (ERPs) were recorded to photos of the child's mother's face versus an unfamiliar female face and photos of a favorite versus an unfamiliar toy from children with ASD, children with typical development, and children with developmental delay, all 3 to 4 years of age (N= 118). Typically developing children showed ERP amplitude differences in two components, P400 and Nc, to a familiar versus an unfamiliar face, and to a familiar versus an unfamiliar object. In contrast, children with ASD failed to show differences in ERPs to a familiar versus an unfamiliar face, but they did show P400 and Nc amplitude differences to a familiar versus an unfamiliar object. Developmentally delayed children showed significant ERP amplitude differences for the positive slow wave for both faces and objects. These data suggest that autism is associated with face recognition impairment that is manifest early in life. [source] Neurocognitive Function and Joint Attention Ability in Young Children with Autism Spectrum Disorder Versus Developmental DelayCHILD DEVELOPMENT, Issue 2 2002Geraldine Dawson Studies have shown that young children with autism are not impaired on prefrontal tasks relative to what would be expected for their mental age, raising questions about the executive dysfunction hypothesis of autism. These studies did not include ventromedial prefrontal tasks, however. The present study examined whether young children with autism spectrum disorder (ASD) are impaired on ventromedial prefrontal tasks, and whether performance on such tasks is correlated with a core autism symptom, joint attention ability. Seventy-two 3- to 4-year-old children with ASD, 34 3- to 4-year-old developmentally delayed children, and 39 12- to 46-month-old typically developing children, matched on mental age, were administered ventromedial and dorsolateral prefrontal tasks and joint attention tasks. Children with ASD performed similarly to comparison groups on all executive function tasks, indicating that at this early age, there is no autism-specific pattern of executive dysfunction. Ventromedial, but not dorsolateral, prefrontal task performance was strongly correlated with joint attention ability, however. The ventromedial prefrontal cortex is hypothesized to play a role in the development of joint attention and possibly some aspects of the autistic syndrome. [source] Health and Psychiatric Disparities in Children with Cognitive and Developmental Delays: Implications for Health Policy in QuebecJOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES, Issue 3 2009Jennifer S. Nachshen Background, Previous research on psychiatric and health disparities according to level of cognitive functioning has focused on adults within an American healthcare context. The current study compares children with and without cognitive and developmental delays in Quebec, Canada, using physician billing data from a longitudinal study of low-income, francophone families. Canada is an ideal context for studying medical billing data as its equal access healthcare system removes many socioeconomic biases. Methods, A large sample (n = 1050) of children is used to describe psychiatric and health disparities, as well as differences in Ambulatory Care Sensitive (ACS) conditions and primary healthcare, between children with (n = 107) and without (n = 943) diagnoses in their billing history indicative of delays. Results, The findings demonstrated a relatively high level of psychiatric diagnoses for children with delays. However, no difference was found between children with and without delays in regard to emergency room visits and hospitalizations for ACS conditions and primary healthcare. Conclusions, The findings suggest that, within a universal healthcare system, disparities in primary healthcare may not emerge until adulthood in individuals with delay status. [source] Developmental delay and unstable state of the testes in the rdw rat with congenital hypothyroidismDEVELOPMENT GROWTH & DIFFERENTIATION, Issue 4 2004Yasuhiro Sakai From the present study of the rdw rat, it is clear that the thyroid hormone is essential for the development and maintenance of the testes. In previous studies, the thyroid hormone has few serious effects on the testes except during the neonatal stage when the thyroid hormone receptor is mainly present. However, there is little knowledge concerning the prolonged effect of thyroid hormone deficiency throughout the rat's life span. In the present study, a morphological analysis was performed on the testes of rdw rats with congenital hypothyroidism. The rdw testes required a longer time to develop into the normal adult structure. Moreover, the developed, normal structure began to degenerate after full maturation. Specific characteristics of the rdw testes include: (i) a prolonged proliferation of Sertoli cells during postnatal development; (ii) a developmental delay in the appearance of spermatocytes and spermatid; (iii) direct contact with each other for both spermatocytes and spermatids, without Sertoli cell cytoplasm completely intervening between adjacent germ cells; (iv) subsequent apoptosis of germ cells after maturation; (v) reduction in the height of the seminiferous epithelium; and (vi) lower testosterone levels in the rdw rats, especially during old age. Thus, we conclude that the thyroid hormone plays an important role in developing and maintaining normal function of testes. [source] Infant developmental milestones and subsequent cognitive functionANNALS OF NEUROLOGY, Issue 2 2007Graham K. Murray MD Objective Developmental delay is associated with a subsequent diagnosis of learning disability. However, the relationship between the age of reaching infant developmental milestones and later intellectual function within the general population remains unresolved. We hypothesized that earlier attainment of developmental milestones would be associated with better subsequent intellectual performance throughout the range of abilities, rather than confined to extremes. Methods Developmental data were obtained at age 2 years in the National Survey of Health and Development, a representative sample of 5,362 children born in the United Kingdom in 1946. Data on intellectual function and educational attainment at ages 8, 26, and 53 years were also obtained. Multiple linear regression and logistic regression were used to analyze the effect of age of reaching developmental milestones on subsequent cognition and educational attainment. Results The age of reaching developmental milestones was associated with intellectual performance at ages 8, 26, and 53 years; for every month earlier a child learned to stand, there was, on average, a gain of one half of one intelligence quotient point at age 8. Speech development had a small but statistically significant effect on subsequent educational attainment (later developers were less likely to progress beyond basic education); this effect was not apparent for motor development. Effect sizes were reduced when the slowest developers were excluded, but many effects remained significant. Interpretation The association between later development and poorer subsequent intellectual function is small, but it does have theoretical implications; we suggest it is secondary to suboptimal cortical-subcortical connectivity. Ann Neurol 2007 [source] Primary microcephaly in Hungary: epidemiology and clinical featuresACTA PAEDIATRICA, Issue 5 2010Nóra Szabó Abstract Aim:, To describe the population-based epidemiological characteristics and clinical features of primary microcephaly in Hungary. Methods:, A retrospective survey of patients born with microcephaly in a region (Dél-Alföld , South Great Plain) in Hungary between July 1, 1992 and June 30, 2006 was performed. Patients with microcephaly and without any environmental or obstetric risk factors and/or dysmorphism (primary microcephaly) were included in the study. The birth prevalence of primary microcephaly per 10 000 live births was calculated. Results:, Ten patients (8 girls and 2 boys) were found with primary microcephaly among 185 486 live births, which corresponds to a birth prevalence of 0.54 per 10 000 live births (95% confidence interval: 0.20,0.87). Developmental delay and intellectual disability were the main clinical features. Dyskinesia was seen in one and epilepsy was diagnosed in two patients. The MRI revealed simplified gyral pattern in all patients. Conclusion:, Primary microcephaly is a very rare brain malformation, although the birth prevalence found in this survey is slightly higher than the few figures published earlier. As more and more genes and mutations responsible for primary microcephaly are discovered, the ascertainment of these rare cases is mandatory to provide the parents with genetic counselling. [source] Congenital polymicrogyria including the perisylvian region in early childhoodCONGENITAL ANOMALIES, Issue 1 2010Tomoyuki Takano ABSTRACT Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying disorders in two cases, namely Kabuki syndrome and Peters' anomaly. In the other four cases, the pathogenetic etiology was not elucidated. Subtle symptoms, such as choking and drooling became detectable in one case each, and expressive language development was delayed in two patients. A developmental delay became apparent in five cases during the follow-up period, and epilepsy was observed in one patient with onset at 12 years of age. Our results indicate that the presence of perisylvian polymicrogyria may not always result in the development of oropharyngoglossal dysfunction or dysarthria, although most patients tend to gradually show the onset of developmental disorders. To support cognitive and psychosocial development, an early integrated approach, including not only conventional speech and language therapy, but also various communication methods is essential for patients with congenital polymicrogyria including the perisylvian region. [source] Developmental delay and unstable state of the testes in the rdw rat with congenital hypothyroidismDEVELOPMENT GROWTH & DIFFERENTIATION, Issue 4 2004Yasuhiro Sakai From the present study of the rdw rat, it is clear that the thyroid hormone is essential for the development and maintenance of the testes. In previous studies, the thyroid hormone has few serious effects on the testes except during the neonatal stage when the thyroid hormone receptor is mainly present. However, there is little knowledge concerning the prolonged effect of thyroid hormone deficiency throughout the rat's life span. In the present study, a morphological analysis was performed on the testes of rdw rats with congenital hypothyroidism. The rdw testes required a longer time to develop into the normal adult structure. Moreover, the developed, normal structure began to degenerate after full maturation. Specific characteristics of the rdw testes include: (i) a prolonged proliferation of Sertoli cells during postnatal development; (ii) a developmental delay in the appearance of spermatocytes and spermatid; (iii) direct contact with each other for both spermatocytes and spermatids, without Sertoli cell cytoplasm completely intervening between adjacent germ cells; (iv) subsequent apoptosis of germ cells after maturation; (v) reduction in the height of the seminiferous epithelium; and (vi) lower testosterone levels in the rdw rats, especially during old age. Thus, we conclude that the thyroid hormone plays an important role in developing and maintaining normal function of testes. [source] Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiencyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 9 2010HAKAN GÜMÜ Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual inheritance of MoCo deficiency/maternal uniparental isodisomy for the first time in the literature. At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy. [source] The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based studyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2010CHRISTOPHER M VERITY Aim, Our aim was to study the clinical presentation, mode of diagnosis, and epidemiology of mitochondrial disorders in children from the UK who have progressive intellectual and neurological deterioration (PIND). Method, Since April 1997, we have identified patients aged 16 years or younger with suspected PIND through the monthly notification card sent to all UK consultant paediatricians by the British Paediatric Surveillance Unit. Clinical details obtained from reporting paediatricians are classified by an Expert Group. Results, By July 2008, 2493 cases of PIND had been reported, among which there were 112 children (69 males, 43 females) with mitochondrial diseases presenting between birth and 14 years 7 months (median 12mo), divided into 13 subgroups. In some instances, clinical features were characteristic of mitochondrial disease, but many children presented non-specifically with combinations of developmental delay, hypotonia, failure to thrive, and seizures; 16 children had multisystem disease at presentation. Mortality was high: 40 children had died. Blood and/or cerebrospinal fluid lactate measurements were abnormal in 87 children, and 47 of 78 brain magnetic resonance images showed increased basal ganglia signal. Definite diagnoses were usually made by muscle enzyme or genetic studies. Interpretation, This is a unique population-based study of the mitochondrial disorders that cause childhood neurodegenerative disease. It provides detailed information about the clinical presentation and investigation of these complex cases. [source] Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein CDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2010CHOONG YI FONG We report two sisters with extensive bilateral periventricular haemorrhagic infarction (PVHI) causing cerebral palsy (CP). The older sister presented at 20 months with cortical visual blindness, spastic diplegia, and purpura fulminans. The younger sister presented aged 3 days old with apnoeas and multifocal seizures. She subsequently had global developmental delay, cortical visual blindness, spastic quadriplegia, epilepsy, and purpura fulminans at age 2 years. Neuroimaging of both siblings showed bilateral PVHI consistent with bilateral cerebral intramedullary venous thrombosis occurring at under 28 weeks' gestation for the older sister and around time of birth for the younger sister. At latest follow-up, the older sister (13y) has spastic diplegia at Gross Motor Function Classification System (GMFCS) level II, and the younger sister (10y) has spastic quadriplegia at GMFCS level IV. Both sisters showed partial quantitative reduction in plasma protein C antigen and severe qualitative reduction in plasma protein C anticoagulant activity. They were heterozygous for two independent mutations in the protein C gene (PROC). There was no other risk factor for CP. To our knowledge, this is the first family reported with compound heterozygous PROC mutations as the likely genetic cause of familial CP. This report adds to the list of known monogenic causes of CP. [source] Global developmental delay , globally helpful?DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 3 2010JANE WILLIAMS No abstract is available for this article. [source] Aromatic l -amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movementsDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2008Susumu Ito MD Aromatic l -amino acid decarboxylase (AADC) deficiency is a rare inborn error of neurotransmitter biosynthesis that leads to a combined deficiency of catecholamines and serotonin and is characterized by global developmental delay, involuntary movements, and autonomic dysfunction. We report the case of an 11-year-old male patient with AADC deficiency who also had epileptic spasms and generalized tonic seizures with asymmetrical features, in addition to frequent involuntary non-epileptic movements. The clinical manifestation of the epileptic attacks apparently resembled that of non-epileptic attacks. It was difficult to differentiate between both attacks without the help of an ictal electroencephalographic study. The epileptic attacks were finally controlled by appropriate antiepileptic drugs. Because an association with epileptic seizures is uncommon in AADC deficiency, some cases may have been regarded as involuntary non-epileptic movements. This indicates that the differentiation of epileptic attacks from non-epileptic ones is indispensable for the adequate treatment of patients with AADC deficiency. [source] Acute encephalopathy with biphasic seizures and late restricted diffusion on MRI in a Japanese child living in the USADEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 9 2008David E Traul MD PhD We report an 18-month-old Japanese female living in the USA whose clinical course and radiographic findings were consistent with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD). She was initially diagnosed with complex febrile seizures. However, on day 3 of admission, she had a cluster of complex partial seizures and the onset of a global developmental regression. In contrast to the normal magnetic resonance image of the brain obtained on admission, subsequent imaging demonstrated transient subcortical diffusion-weighted abnormalities in the white matter of the bilateral posterosuperior frontal, parietal, temporal, and occipital regions, with sparing of the perirolandic area. One year later, her developmental delay, although improved, persisted and she continued to experience sporadic seizures while being treated with topiramate monotherapy. Repeat imaging showed diffuse, poorly defined, increased T2 signals in the white matter of the posterosuperior frontal, parietal, temporal and occipital regions and diffuse cerebral volume loss. Previous reports of AESD have been limited to children aged under 4 years living in Japan. With the identification of this case, it is important that all physicians, not only those in Japan, who care for children with febrile seizures be aware of AESD and its associated neurological morbidity. [source] Bronchopulmonary dysplasia predicts adverse developmental and clinical outcomes in very-low-birthweight infantsDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 1 2008Suh-Fang Jeng PT ScD This study examined the developmental and clinical outcomes in very-low-birthweight (VLBW; ,1500g) infants with and without bronchopulmonary dysplasia (BPD) throughout infancy, and assessed if BPD predicted poor developmental outcome beyond the effects of other risk factors. One hundred and three VLBW infants (53 males, 50 females; mean gestational age 28wks [SD 2] birthweight 1041g [SD 261]) were graded for severity of BPD according to the American National Institutes of Health (NIH) consensus definition. Neuro-development was assessed using the Neonatal Neurobehavioral Examination-Chinese version, at 36 and 39 weeks' postmenstrual age, and the 2nd edition of the Bayley Scales of Infant Development at 6 and 12 months' corrected age. Clinical outcome was measured by means of rehospitalization for pulmonary causes and treatment with pulmonary medications. Compared with infants without BPD, infants with BPD had higher rates of clinical morbidity, and those with severe BPD further exhibited higher incidences of developmental delay throughout infancy. BPD predicts poor 1-year developmental and clinical outcomes in VLBW infants for which effects are well correlated to the NIH consensus definition. [source] Neurodevelopmental outcomes in children with HIV infection under 3 years of ageDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 8 2006C J Foster BA MBBS MRCPCH Following the introduction of combination antiretroviral therapy, children vertically infected with the human immunodeficiency virus (HIV-1) living in the developed world are surviving into adult life. This paper reviews the neurodevelopmental outcomes of 62 consecutively-presenting children with HIV-1 infection diagnosed before 3 years of age (32 males, 30 females; median age at presentation 6mo). Neurological and developmental data are presented with immunological and virological responses to antiretroviral therapy. Fourteen children (22%) had abnormal neurological signs and 25 (40%) demonstrated significant developmental delay on standardized developmental assessments. Children presenting with more severe HIV-1 disease and immune compromise had significantly more abnormal neurological signs and developmental delays than children presenting with milder HIV-1 symptomatology. Immune function, control of HIV-1 viral replication, and growth parameters improved with antiretroviral therapy (median age at last follow-up 7y 3mo); however, abnormal neurological signs and significant gross motor difficulties persisted. [source] Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseasesDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2 2006Joannie Hui MBBS The aim of this study was to illustrate the difficulties in establishing a diagnosis of mitochondrial respiratory chain (MRC) disorders based on clinical grounds in combination with intermediate activities of the MRC enzyme complexes. We reviewed retrospectively all medical and laboratory records of patients initially considered likely to have MRC disorders on clinical grounds, and subsequently diagnosed with other disorders (n=20; 11 males, 9 females). Data were retrieved from hospital records, referral letters, and results of enzymatic analysis at a reference laboratory. Clinical symptoms included developmental delay, epilepsy, hypotonia, movement disorder, spastic quadriplegia, tetany, microcephaly, visual problems, carpopedal spasms, dysmorphism, hearing loss, muscle weakness and rhabdomyolysis, and fulminant hepatitis. Blood and cerebrospinal fluid lactate levels were elevated in 13/20 and 9/20 respectively. One or more MRC complex activities (expressed as ratios relative to citrate synthase and/or complex II activity) were less than 50% of control mean activity in 11/20 patients (including patients with deficiencies of pyruvate dehydrogenase complex, pantothenate kinase, holocarboxylase synthetase, long-chain hydroxy acyl-CoA dehydrogenase, molybdenum co-factor, and neonatal haemochromatosis). One patient had a pattern suggestive of mitochondrial proliferation. We conclude that intermediate results of MRC enzymes should be interpreted with caution and clinicians should be actively looking for other underlying diagnoses. [source] Corrected head circumference centiles as a possible predictor of developmental performance in high-risk neonatal intensive care unit survivorsDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2005François V Bolduc MD FRCPC The aim of this study was to evaluate the predictive value of corrected head circumference (HC) centiles at 2 years of age with respect to developmental performance in a series of high-risk neonatal intensive care unit (NICU) survivors with microcephaly. The study used a retrospective review of the clinical files of children seen in a clinic devoted to the follow-up of all high-risk survivors of a hospital's level III NICU. All children with microcephaly (occipital-frontal circumference below the 2nd centile for sex) at 2 years of age were identified. The HC obtained at 2 years was corrected to the ages for which the absolute HC corresponded to either the 50th or 2nd centile for the child's sex. Of 312 high-risk patients followed, 38 (12.2%) were microcephalic. Fifteen performed below the 50th age-corrected HC centile (severe developmental delay), 12 performed between the 50th and 2nd age-corrected HC centile (moderate developmental delay), and 11 performed above the 2nd age-corrected HC centile (mild developmental delay). The absolute value of HC measurement was not a predictor of developmental performance. Of all clinical factors evaluated, only coexisting epilepsy was found to be a significant predictor of less than the 50th age-corrected HC centile developmental performance (Chi2=6.134, p=0.01). We conclude that in a high-risk population, the presence of microcephaly implies developmental impairment, though neither the absolute HC measurement nor the corrected HC centile is predictive. Coexisting epilepsy in this context appears to worsen developmental outcome. [source] Polymicrogyria in monozygous twins and an elder siblingDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 7 2003Po-Cheng Hung MD Monozygous twin births have been associated with brain lesions such as hydranencephaly, multicystic encephalomalacia, and porencephaly. Prenatal circulatory injury has been considered to be the cause. Polymicrogyria is rare but has been reported in autopsied cases. The sibship in this case report, comprising monozygotic male twins and their elder sister from the same non-consanguineous parents, all had global developmental delay. Brain MRI showed polymicrogyria. We suggest that, apart from circulatory compromise, genetic etiology must be implicated as the cause of polymicrogyria. [source] Gliomatosis cerebri in a 10,year-old girl masquerading as diffuse encephalomyelitis and spinal cord tumourDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2 2001Sandeep Jayawant Gliomatosis cerebri is the unifying term used when diffuse glial infiltration occurs throughout the cerebral hemispheres. The very few cases reported in children have presented with intractable epilepsy, corticospinal tract deficits, unilateral tremor, headaches, and developmental delay. Antemortem diagnosis is difficult because of the vagueness of the physical, radiological and pathological findings. Adult cases may simulate an acute diffuse encephalomyelitis and show postmortem evidence of a marked swelling of the spinal cord. Apparently benign intracranial hypertension with papilloedema has also been recorded. We report a 10,year-old girl who presented with a history and physical signs suggestive of benign intracranial hypertension. A diffuse encephalomyelopathy occurred, which was complicated by spinal cord swelling, followed by deterioration and death. Gliomatosis cerebri affecting the brain and spinal cord was found at postmortem examination. [source] Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome)DIABETIC MEDICINE, Issue 10 2007Z. Sumnik No abstract is available for this article. [source] Sensitivity to visual and auditory stimuli in children with developmental dyslexiaDYSLEXIA, Issue 2 2008Bernardine King Abstract This study considered the extent to which 23 children with dyslexia differed from 23 reading age (RA) and 23 chronological age (CA) matched controls in their ability to make temporal judgements about auditory and visual sequences of stimuli, and in the speed of their reactions to the onsets and offsets of visual and auditory stimuli. The children with dyslexia were slower (p,=,0.039) than the CA controls in their reactions to non-verbal auditory onsets (tones), were less able to recognize the first stimulus of a sequence of tones (p,=,0.022), and were less accurate in identifying the initial phoneme of a sequence of three (p,<,0.001). These characteristics may be manifestations of an impaired temporal processing system for rapid auditory stimuli. CA controls responded more quickly to tone onsets than to tone offsets (p,=,0.025), but the dyslexic and RA groups showed no significant difference (p,>,0.05) in their reaction times to onsets and offsets of these non-verbal auditory stimuli. Dyslexic readers showed impairment compared with CA controls in responding to the last of a sequence of three non-verbal visual stimuli (shapes), p,=,0.02. Reaction times in the visual and auditory onset and offset tasks were richly intercorrelated in the control groups, but the dyslexic group did not show as many significant correlations in reaction times between the auditory and visual domains, or between the onset and offset RTs within each modality. These results suggest that there may be a less integrated cross-modal and intra-modal temporal system in children with dyslexia than in controls. In many of the measures in this study, the performance of the dyslexic group resembled that of the RA control group but differed from CA controls, which implies a developmental delay. The possibility that such a cognitive delay may be related to an underlying neurological disorder is discussed. Copyright © 2007 John Wiley & Sons, Ltd. [source] Prevalence of persistent primary reflexes and motor problems in children with reading difficultiesDYSLEXIA, Issue 4 2004M. McPhillips Abstract It has been shown that some children with reading difficulties have underlying developmental delay and that this may be related to the persistence of primary reflexes. This study investigated the prevalence of persistent primary reflexes in the ordinary primary school population and how this related to other cognitive and social factors. Three groups of 41 children were drawn from a representative, cross-sectional sample of 409 children (aged 9,10 years) attending 11 ordinary primary schools in N. Ireland. The three groups represented the bottom, middle and top 10% respectively of readers from the total sample population. The relative persistence (on a scale of 0 to 4) of the Asymmetrical Tonic Neck Reflex (ATNR) and the prevalence of motor difficulties were assessed for these 3 groups. The rôle of 5 predictor variables (verbal IQ, social deprivation, sex, month of birth and religious affiliation) in determining the reading level of the total sample was also investigated. It was found that the lowest reading group had a significantly higher mean level of ATNR (1.56 [95% CI 1.22,1.90]) compared with the middle reading group (0.56 [0.22,0.90]) and the top reading group (0.59 [0.25,0.92]). 17% of children in the lowest reading group had extremely high levels of the ATNR while 24% showed no presence of ATNR. This contrasted with 0% and 66%, respectively for both middle and top reading groups. It was also found that there was a significant difference between the lowest reading group and the top reading group on a standardised test of motor ability. Furthermore, there was evidence that ATNR persistence but not motor ability was associated with the sex of the child with boys, in particular, at risk. There was no evidence that ATNR persistence or motor ability was significantly associated with social deprivation. It was also found that there were no significant differences between dyslexic and non-dyslexic children with reading difficulties in motor (including balance) performance. This study highlights the high levels of primary reflex persistence in children with reading difficulties and it provides further evidence of the association between reading difficulties and movement difficulties in young children. However, while the implications for intervention are discussed, it is stressed that the persistence of primary reflexes cannot be used as a causal model for reading difficulties, including dyslexia. Copyright © 2004 John Wiley & Sons, Ltd. [source] Metamorphic inhibition of Xenopus laevis by sodium perchlorate: Effects on development and thyroid histologyENVIRONMENTAL TOXICOLOGY & CHEMISTRY, Issue 4 2005Joseph E. Tietge Abstract The perchlorate anion inhibits thyroid hormone (TH) synthesis via inhibition of the sodium-iodide symporter. It is, therefore, a good model chemical to aid in the development of a bioassay to screen chemicals for affects on thyroid function. Xenopus laevis larvae were exposed to sodium perchlorate during metamorphosis, a period of TH-dependent development, in two experiments. In the first experiment, stage 51 and 54 larvae were exposed for 14 d to 16, 63, 250, 1,000, and 4,000 ,g perchlorate/L. In the second experiment, stage 51 larvae were exposed throughout metamorphosis to 8, 16, 32, 63, and 125 ,g perchlorate/L. Metamorphic development and thyroid histology were the primary endpoints examined. Metamorphosis was retarded significantly in the first study at concentrations of 250 ,g/L and higher, but histological effects were observed at 16 ,g/L. In the second study, metamorphosis was delayed by 125 ,g/L and thyroid size was increased significantly at 63 ,g/L. These studies demonstrate that inhibition of metamorphosis readily can be detected using an abbreviated protocol. However, thyroid gland effects occur at concentrations below those required to elicit developmental delay, demonstrating the sensitivity of this endpoint and suggesting that thyroidal compensation is sufficient to promote normal development until perchlorate reaches critical concentrations. [source] Symptomatic Epilepsies Imitating Idiopathic Generalized EpilepsiesEPILEPSIA, Issue 2005Hirokazu Oguni Summary:, The diagnosis of idiopathic generalized epilepsies (IGEs) is not generally difficult if one follows the clinical and electroencephalogram (EEG) definitions of each subsyndrome that constitutes IGEs. In contrast, symptomatic epilepsies develop based on organic brain lesions and are easily diagnosed by the presence of developmental delay, neurologic abnormalities, and a characteristic seizure and EEG pattern. However, in clinical practice, it is sometimes difficult to differentiate IGEs from symptomatic epilepsies, especially when the clinical course from the onset of epilepsy is too short to exhibit typical clinical and EEG findings of either epilepsy type, or when patients with symptomatic epilepsies have atypical features that imitate the clinical characteristics of IGEs. The neurodegenerative or metabolic disorders at times start during the clinical course with epileptic seizures and later show typical neurologic abnormalities. The newly recognized metabolic disorder of glucose transporter type 1 deficiency syndrome (Glut-1 DS) may start with myoclonic seizures at an age of less than 1 year and imitate benign myoclonic epilepsy in infancy early in the clinical course. Progressive myoclonus epilepsies (PMEs) that develop at 1,4 years of age at times imitate epilepsy with myoclonic-astatic seizures with respect to the presence of astatic seizures and an epileptic encephalopathic EEG pattern. In addition, young children with focal cortical dysplasia may also have similar clinical and EEG patterns, although the latter may become localized after treatment. Approximately 15% of patients with juvenile myoclonic epilepsy (JME) are resistant to antiepileptic drugs (AEDs) and may require extensive study to make a differential diagnosis from symptomatic epilepsies. PMEs that develop during adolescence may imitate JME early in the clinical course; however, a detailed history and the differentiation between myoclonic seizures and myoclonus would help to distinguish both conditions. The diagnosis of IGEs is very demanding for patients with atypical features with regard to seizure type, EEG findings, and response to appropriate AEDs. [source] Migrating Partial Seizures in Infancy: Expanding the Phenotype of a Rare Seizure SyndromeEPILEPSIA, Issue 4 2005Eric Marsh Summary:,Purpose: The constellation of early-onset, unprovoked, alternating electroclinical seizures and neurodevelopmental devastation was first described by Coppola et al. We report six new patients and the prospect of a more optimistic developmental outcome. Methods: Retrospective chart reviews were performed on six infants evaluated at the Children's Hospital of Philadelphia (five patients) and at Hershey Medical Center (one patient) who had electroclinically alternating seizures before age 6 months of age. Electroclinical characteristics and long-term follow-up were recorded. Results: All had unprovoked, early-onset (range, 1 day to 3 months; mean, 25 days) intractable electroclinical seizures that alternated between the two hemispheres. Each patient underwent comprehensive brain imaging and neurometabolic workups, which were unrevealing. In all patients, subsequently intractable partial seizures developed and often a progressive decline of head circumference percentile occurred with age. Three demonstrated severe developmental delay and hypotonia. All survived, and 7-year follow-up on one patient was quite favorable. Conclusions: Our patients satisfied the seven major diagnostic criteria first described by Coppola et al. The prognosis of this rare neonatal-onset epilepsy syndrome from the original description and subsequent case reports was very poor, with 28% mortality, and the majority of survivors were profoundly retarded and nonambulatory. Our patient data validate the diagnostic criteria of this syndrome and further quantify a previously described observation of progressive decline of head circumference percentiles with age. Our data also suggest that the prognosis of this syndrome, although poor, is not as uniformly grim as the cases reported previously in the literature. [source] Genetic Malformations of the Cerebral Cortex and EpilepsyEPILEPSIA, Issue 2005Renzo Guerrini Summary:, We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in ,20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly,pachygyria are caused by mutations of LIS1 and XLIS genes. LIS1 mutations cause a more severe malformation posteriorly. Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded. XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. Thickness of the band and severity of pachygyria correlate with the likelihood of developing Lennox,Gastaut syndrome. Mutations of the coding region of XLIS are found in all reported pedigrees and in 50% of sporadic female patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene need confirmation. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to Xq28 in some pedigrees, autosomal recessive inheritance in others, and association with 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox,Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2,21. [source] Joubert syndrome: review and report of seven new casesEUROPEAN JOURNAL OF NEUROLOGY, Issue 8 2004S. Kumandas Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS. [source] Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene,HUMAN MUTATION, Issue 7 2007Eva Trevisson Abstract Argininosuccinic aciduria (ASAuria) is an inborn error of metabolism caused by mutations in the argininosuccinate lyase (ASL) gene, which leads to the accumulation of argininosuccinic acid (ASA) in body fluids and severe hyperammonemia. A severe neonatal form and a milder late-onset variant are described. We report a novel ASL pseudogene located in the centromeric region of chromosome 7, 14 novel mutations in the ASL gene, and a novel intronic polymorphism found in a cohort of Italian patients. Our approach relied exclusively on genomic DNA analysis. We found seven missense mutations, two nonsense, three small insertions/deletions, and two splicing mutations. Only two patients harbored previously described mutations, and among the novel variants only two were present in more than one kindred. The pathogenicity of the splicing mutations was demonstrated by a functional splicing assay that employed a hybrid minigene. We also performed molecular modeling using the reported three-dimensional structure of ASL to predict the functional consequences of the missense mutations. There was no genotype,phenotype correlation. Patients with neonatal onset display developmental delay and seizures despite adequate metabolic control. Moreover, hepatomegaly, fibrosis, and abnormal liver function tests are common complications in these patients, but not in patients with the late infancy form. We stress the importance of mutation analysis in patients with ASAuria, to confirm the clinical diagnosis, and to perform DNA-based prenatal diagnosis in future pregnancies of these families. Hum Mutat 28(7), 694,702, 2007. © 2007 Wiley-Liss, Inc. [source] Unfamiliar face recognition in children with autistic spectrum disordersINFANT AND CHILD DEVELOPMENT, Issue 6 2009Rebecca R. Wilson Abstract We investigated unfamiliar face recognition in low-functioning children with autistic spectrum disorders (ASD) using a ,part-of-face' method. This method has not previously been used for unfamiliar faces with this population. The ,part-of-face' procedure provides measures of both face recognition accuracy and of processing style. We compared the performance of the children with ASD with three control groups: children with developmental delay (DD), typically developing (TD) children matched for verbal cognitive ability and TD children matched for chronological age (CA). Compared to the DD group, the ASD group showed similar processing in recognition accuracy and processing style. Compared to the TD children, the ASD group did not show the same level of accuracy as controls of the same CA, instead showing similar performance to younger TD children. However, as both children with ASD and DD showed the same performance, no ASD-specific deficit was found. Copyright © 2009 John Wiley & Sons, Ltd. [source] | |||||||||||||||||||||||||||||||||||||||||||