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ABSTRACT: Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis confined to females. It is usually lethal in males. However, the survival of some males has been reported in literature. We describe a long follow-up case of a 12-year-old male with IP and a normal karyotype but a genomic deletion of the NEMO gene in the Xq28 position in the form of somatic mosaicism. The patient showed severe ophthalmic abnormalities and neurological manifestations characterised by very mild cerebellar ataxia and a history of epilepsy that was severe at the beginning with West syndrome, become moderate overtime and is now resolved. Despite these neurological manifestations, probably related to the presence of at least some mutated cells in his brain, the long-term follow-up in this patient demonstrated good neurological and cognitive outcome.
European Journal of Pediatrics 05/2013; · 1.88 Impact Factor
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ABSTRACT: Attention Deficit Hyperactivity Disorder (ADHD) is a disorder with extremely complex etiology, not yet well defined but certainly multi-factorial. This study investigated the possible etiopathogenetic role of ADHD symptoms and psychopathology disorders in parents of children with ADHD. We present a case-control study of parents of 50 children affected by ADHD and of 45 healthy children, matched to age and gender. Parents of ADHD children reported higher levels of ADHD symptoms, depressive disorders and Depressive Personality Disorders than parents of healthy children. Mothers displayed greater presence of depression, while fathers showed problems concerning alcohol use. The occurrence of ADHD symptoms, psychopathology and personality disorders in parents highlights the importance to integrate the treatment programs in the ADHD children with the screening and treatment for psychopathological symptoms of the parents.
Research in developmental disabilities 01/2013; 34(3):1036-1043. · 4.41 Impact Factor
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ABSTRACT: The migration process is a cause of physical and social stressors that may lead to mental health problems, particularly in children. In Italy, there are few studies about migrant children's mental health; thus, the aim of this study is to compare the prevalence and types of emotional and behavioral problems in migrant schoolchildren to those of native Italian children. The research involved migrant (first- and second-generation) and native schoolchildren attending kindergarten, primary, and secondary school. A questionnaire was administered to parents to collect information about the sociodemographic characteristics of the children. All teachers filled in the Teacher's Report Form for migrant and native children. The findings show that teachers detect academic and adaptive problems more easily in migrant schoolchildren, but they are probably less aware of the children's psychological problems. The observations made in this study provide a starting point in understanding the psychological status and main problems noted among migrant children.
Neuropsychiatric Disease and Treatment 01/2013; 9:231-41. · 1.81 Impact Factor
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ABSTRACT: Background Ophthalmoplegic migraine (OM) is a rare condition characterized by the association of headaches and an oculomotor nerve palsy. The third cranial nerve is commonly involved in recurrent attacks, whereas involvement of the sixth and fourth nerves is uncommon. It is still debated whether an uncontrolled migraine or an oculomotor neuropathy may be the primary cause of ophthalmoplegic migraine. Cases We report two patients affected by OM with normal magnetic resonance imaging findings and a history of uncontrolled migraine before an attack of OM. Conclusion The cases reported allow us to hypothesize that OM may be considered a form of migraine rather than a cranial neuralgia. It is possible that different factors such as inflammatory or structural factors, may represent a vulnerability of the nerve during a severe migraine attack causing ophthalmoplegia.
Cephalalgia 12/2012; 32(16):1208-1215. · 3.43 Impact Factor
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ABSTRACT: A long-term follow-up study was conducted in patients affected by Continuous Spikes and Waves during slow Sleep (CSWS) to evaluate the long-term outcomes. Twenty-five patients (19 males, 6 females), from 2 to 16years of age (mean age 6years±3 SD), affected by CSWS syndrome, as defined by the International League Against Epilepsy (ILAE, 1989), were enrolled and followed for 11years (mean duration of follow-up: 3.9years). At the time of the appearance of CSWS, one or more neuropsychiatric disorders were present in 96% of the patients, such as behavioral problems in 54%, mental retardation in 37.5%, learning disabilities in 33%, developmental coordination disorder in 17%, language disorder in 12.5%, and pervasive developmental disorder in 8%. During the follow-up, neuropsychiatric dysfunctions remained unaltered in 52% of the patients, worsened in 24%, and improved in only 24%. Our data confirm that CSWS may be associated with a broad spectrum of neuropsychiatric disorders and may promote their worsening over time. Moreover, the findings cannot be generalized to all cases of children with CSWS because most of the children in the subgroups with no change in outcome and worse outcome had symptomatic CSWS.
Epilepsy & Behavior 11/2012; 25(4):558-562. · 2.34 Impact Factor
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ABSTRACT: The association between cerebral venous thrombosis (CVT) and multiple sclerosis (MS) has already been reported in several adult patients with clinically definite MS, in a suspected relation to i.v. corticosteroids or previously performed lumbar puncture (LP). We are reporting a case, which is, to our knowledge, the first one concerning a child patient with a MS, who developed multiple CVT after LP and during high-dose i.v. corticosteroid. Our conclusions are that the sequence LP followed by high dose corticosteroids may be a contributory factor for the development of CVT when associated with other risk factors.
Brain & development 10/2012; · 1.74 Impact Factor
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ABSTRACT: Lead poisoning is a medical condition caused by increased levels of the heavy metal lead in the body, generally resulting from environmental exposure. Lead poisoning can cause a variety of symptoms which vary depending on the individual and the duration of lead exposure; lead poisoning is more noxious to children than adults, because it can damage the brain and nerve development of children.We report a case of lead poisoning in a 5-year-old girl caused by accidental ingestion of a metal ring. Simultaneously, the child showed anemia, encephalopathy, and peripheral neuropathy with albuminocytological dissociation mimicking Guillain-Barré syndrome.This case suggests that anemia with signs of peripheral and central nervous system damage could be considered as a possible manifestation of lead poisoning in children.
Neuropediatrics 08/2012; 43(4):217-20. · 0.94 Impact Factor
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ABSTRACT: Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability (ID) and behavioral disturbances. This article reports the clinical features, and long term follow-up of a patient with neurodevelopmental, cognitive, and behavioral abnormalities associated with facial dysmorphism, CNS anomalies, and epilepsy. The karyotype was normal; array CGH testing revealed a de novo cryptic aberration with a terminal 8p23.2p23.3 deletion, and a concomitant 12p13.31p13.33 duplication, of 6.86 Mb, and 8.49 Mb, respectively. Our patient clinical features are compared to those of partial 8 monosomy and/or partial 12p trisomy cases reported in literature, in order to establish genotype-phenotype correlations. For some features, for example, electroencephalogram (EEG) abnormalities and epilepsy, both abnormalities seem to make a contribution, while most phenotypic traits have been assigned to 8p monosomy or to 12p trisomy, contributing to a tentative phenotype map for partial monosomy of the short arm of chromosome 8, and trisomy of the short arm of chromosome 12.
American Journal of Medical Genetics Part A 05/2012; 158A(7):1713-8. · 2.39 Impact Factor
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ABSTRACT: Palatal tremor is a rare movement disorder characterized by rhythmic contractions of the soft palate. It is most often symptomatic, secondary to brainstem or cerebellar disease and, in rarer cases, is categorized as essential in the absence of documented brain lesions. There have also been reports in the literature of cases of palatal tremor described as psychogenic because they were associated with psychological or psychiatric disorders. We describe the case of a 12-year-old boy with palatal tremor presenting clinical features of symptomatic essential and psychogenic palatal tremor, thus suggesting a neuropsychopathological continuum between the different forms of disease.
Neuropsychiatric Disease and Treatment 01/2011; 7:223-7. · 1.81 Impact Factor
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ABSTRACT: Genetic and environmental risk factors and gene-environment interactions are linked to higher likelihood of developing schizophrenia in accordance with the neurodevelopmental model of disease; little is known about risk factors and early development in early-onset schizophrenia (EOS) and very early-onset schizophrenia (VEOS).
We present a case-control study of a sample of 21 patients with EOS/VEOS and a control group of 21 patients with migraine, recruited from the Child Neuropsychiatry Unit, Department of Neurologic and Psychiatric Science, University of Bari, Italy. The aim was to assess the statistical association between VEOS/EOS and family history for psychiatric disorders, obstetric complications and childhood developmental abnormalities using 2 × 2 tables and a Chi Squared or Fisher test.
The results show a statistical association between EOS/VEOS and schizophrenia and related disorders (P = 0.02) and personality disorders (P = 0.003) in relatives, and between EOS/VEOS and developmental abnormalities of early relational skills (P = 0.008) and learning (P = 0.04); there is not a statistically relevant difference between cases and controls (P > 0.05) for any obstetric complications (pre, peri and postpartum).
This study confirms the significant role of familial liability but not of obstetric complications in the pathogenesis of VEOS/EOS; the association between childhood developmental abnormalities and EOS/VEOS supports the neurodevelopmental model of disease.
BMC Psychiatry 01/2011; 11:60. · 2.55 Impact Factor
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ABSTRACT: The utility of the developmental quotient (DQ) obtained with the Psychoeducational Profile Revised (PEP-R) was assessed as a means of estimating cognitive ability in young children with pervasive developmental disorders. Data from the PEP-R were analysed in a sample of 44 children aged from 2.0 to 5.9 years (mean 3.46 ± 1), 13 with an autistic disorder and 31 with a pervasive developmental disorder not otherwise specified. DQ scores were compared with scores from the Leiter International Performance Scale Revised-Visualization and Reasoning Battery (Leiter-R) in the same 44 children. Overall and domain DQs on the PEP-R were significantly correlated with Leiter-R scores. This study suggests that DQ scores obtained from the PEP-R in preschool children with pervasive developmental disorders may be a viable alternative to the Leiter-R as an assessment tool.
Neuropsychiatric Disease and Treatment 01/2010; 6:337-42. · 1.81 Impact Factor
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ABSTRACT: This study evaluates the correlation between failure to develop spontaneous imitation and language skills in pervasive developmental disorders. Sixty-four children between the age of 3 and 8 years were assessed using the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS), and the Autism Diagnostic Observation Schedule (ADOS), as well as direct observation of imitation. The sample was subdivided into a verbal and a nonverbal group. Analysis of mean scores on the CARS "imitation" items and of ADI-R "spontaneous imitation" and "pointing to express interest" revealed a statistically significant difference between verbal and nonverbal groups, with more severe impairment/higher scores in the nonverbal than the verbal group. These results suggest that nonverbal children have specifically impaired imitation and pointing skills.
Neuropsychiatric Disease and Treatment 08/2009; 5:355-62. · 1.81 Impact Factor
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ABSTRACT: Data from the Psychoeducational Profile-Revised (PEP-R) were analysed in a sample of 46 children, aged from 1.7 to 5.11 years, of whom 21 had autistic disorder (AD) and 25 had pervasive developmental disorder not otherwise specified (PDD-NOS). Analysis with a t-test for independent samples revealed a significant difference (p < 0.05) between children with AD and those with PDD-NOS on both developmental and behavioural PEP-R scales, supporting the utility of the PEP-R in discriminating between two diagnostic groups. This study emphasizes the effectiveness of the PEP-R as a tool for the early assessment of children with pervasive developmental disorders.
Autism 03/2009; 13(2):179-91. · 2.27 Impact Factor
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ABSTRACT: Although schizophrenia has been diagnosed in children, this group of disorders has received too little attention in the clinical and research literature. Preliminary data suggest that early onset schizophrenia (EOS) and very early onset schizophrenia (VEOS) tend to have a worse outcome than adult onset schizophrenia, and seem to be related to a greater familial vulnerability, due to genetic, psychosocial, and environmental factors. Recently, advanced neuroimaging techniques have revealed structural and functional brain abnormalities in some cerebral areas. This paper reports on a case diagnosed as VEOS, with premorbid year-long psychopathological history. The patient showed atypical proton magnetic resonance spectroscopy findings, and normal brain and spine computer tomography and brain magnetic resonance images.
Neuropsychiatric Disease and Treatment 09/2008; 4(4):825-30. · 1.81 Impact Factor
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Yvonne G Weber,
Alexander Storch,
Thomas V Wuttke,
Knut Brockmann,
Judith Kempfle,
Snezana Maljevic, Lucia Margari,
Christoph Kamm,
Susanne A Schneider,
Stephan M Huber, [......],
Felix M Mottaghy,
Alexander Münchau,
Mark J Edwards,
Anna Presicci,
Francesco Margari,
Thomas Gasser,
Florian Lang,
Kailash P Bhatia,
Frank Lehmann-Horn,
Holger Lerche
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ABSTRACT: Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are sporadic in nature. The pathophysiology underlying these disorders remains largely unknown but may involve disrupted ion homeostasis due to defects in cell-surface channels or nutrient transporters. In this study, we describe a family with paroxysmal exertion-induced dyskinesia (PED) over 3 generations. Their PED was accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia with echinocytosis, and altered erythrocyte ion concentrations. Using a candidate gene approach, we identified a causative deletion of 4 highly conserved amino acids (Q282_S285del) in the pore region of the glucose transporter 1 (GLUT1). Functional studies in Xenopus oocytes and human erythrocytes revealed that this mutation decreased glucose transport and caused a cation leak that alters intracellular concentrations of sodium, potassium, and calcium. We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability. Combining these data with brain imaging studies, we propose that the dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia, and that the hemolysis with echinocytosis may result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1.
Journal of Clinical Investigation 07/2008; 118(6):2157-68. · 15.39 Impact Factor
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ABSTRACT: The authors describe a girl with Costello syndrome who showed cerebral palsy and neurosensorial deafness. Brain computer tomography and magnetic resonance findings were normal. Multivoxel proton magnetic resonance spectroscopy showed a lowering of the peak of choline with a reduced choline/creatine ratio at the level of the centrum semiovale. These findings might be due to a congenital dysmyelinating or hypomyelinating condition. A complete neuroimaging study can play a relevant role to better clarify the pathogenesis of brain involvement in Costello syndrome.
Journal of Child Neurology 06/2007; 22(5):650-4. · 1.75 Impact Factor
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ABSTRACT: Diagnosis of neurofibromatosis 1 is based on clinical criteria. In a large number of children with neurofibromatosis 1, magnetic resonance imaging (MRI) reveals high-signal T(2)-weighted intensities in different brain regions, defined as unidentified bright objects. These lesions are asymptomatic; most of them regress spontaneously with age, but the presence of contrast enhancement or mass effect in them usually strongly suggests an increased risk of proliferative changes. To date, few studies have focused on evoked potentials in patients with neurofibromatosis 1, and the reported abnormalities did not have significant clinical correlations. We describe the clinical and instrumental (MRI and evoked potentials) follow-up of three patients with neurofibromatosis 1. MRI and evoked potentials showed subclinical involvement of the central nervous system. Some MRI T(2)-weighted hyperintensities showed enhancement and mass effect of uncertain significance. During follow-up, the MRI lesions spontaneously decreased in size or enhancement, allowing us to exclude the hypothesis of proliferative lesions; in the same way, some asymptomatic evoked potential abnormalities disappeared. These findings suggest that both MRI and evoked potentials could be useful in the detection and monitoring of cerebral complications of neurofibromatosis 1.
Journal of Child Neurology 01/2007; 21(12):1085-90. · 1.75 Impact Factor
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ABSTRACT: Megalocornea-mental retardation syndrome, otherwise known as Neuhauser syndrome, is a rare autosomal recessive disorder. Only 36 cases have been reported in the literature. We describe the clinical and instrumental follow-up, lasting 5 years, of a case showing the typical features of the syndrome, associated with transient hypothyroidism, epilepsy, cerebral palsy with choreoathetotic movements, and brain malformation. Our report might help better delineate the phenotype and natural history of the syndrome.
Journal of Child Neurology 11/2006; 21(10):893-6. · 1.75 Impact Factor
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ABSTRACT: Congenital nonprogressive cerebellar ataxia includes a complex group of disorders with heterogeneous phenotypic and etiopathogenetic characteristics. Despite recent advances in the understanding of the role of the cerebellum in cognition and behavior, the opinion that the clinical presentation of congenital cerebellar diseases is principally linked to motor dysfunction is common. This is largely due to the lack of well-organized epidemiologic studies on the prevalence of nonmotor disturbances in cerebellar disease. The association between congenital cerebellar disease and epilepsy has rarely been described. We report clinical, neurophysiologic, neuroimaging, and neuropsychologic features in a group of 14 patients with congenital nonprogressive cerebellar ataxia associated with cerebellar hypoplasia, 5 of whom have familial disease, aiming to further a better knowledge of the prevalence of cognitive and/or emotional impairment and epilepsy. The results confirm that cerebellar hypoplasia predisposes individuals to psychomotor delay (71.4%) and cognitive impairment (85.7%). Moreover, the tendency toward abnormal electroencephalographic (EEG) findings (78.5%), associated in a minor percentage of cases with epilepsy (28.5%), is also evident in our study.
Journal of Child Neurology 10/2006; 21(9):776-81. · 1.75 Impact Factor
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ABSTRACT: This report presents clinical, laboratory, and neuroimaging findings in a 7-year-old male with Sydenham's chorea associated with attention-deficit hyperactivity disorder. Western immunoblotting revealed serum anti-human basal ganglia tissue antibodies. Magnetic resonance imaging results were normal. Proton magnetic resonance spectroscopic imaging disclosed increased choline/creatine ratio in basal ganglia, frontal, and parieto-occipital areas, and decreased N-acetyl aspartate/creatine ratio in both basal ganglia and frontal areas. Moreover magnetic resonance spectroscopy revealed a peak between 3.6-4.2 ppm of unclear significance. The findings of this study are compared with the previous magnetic resonance spectroscopic studies reported on Sydenham's chorea and attention-deficit hyperactivity disorder. Magnetic spectroscopic imaging suggests an autoimmune basal ganglia damage in the pathogenesis of Sydenham's chorea and fronto-striatal impairment in attention-deficit hyperactivity disorder. In the present case, the previous history of an attention-deficit hyperactivity disorder suggests that this neurobehavioral disorder could be a risk factor for Sydenham's chorea in children with rheumatic fever.
Pediatric Neurology 07/2006; 34(6):467-73. · 1.52 Impact Factor
