Methylphenidate Use for Emotional Dysregulation in Children and Adolescents with ADHD and ADHD and ASD: A Naturalistic Study.

Emotional dysregulation (ED) is common in attention-deficit/hyperactivity disorder (ADHD). Nonetheless, research on ADHD in children with autism spectrum disorder (ASD) and ADHD is still ongoing. Several studies suggest that methylphenidate (MPH) may be effective for ED in ADHD, while there is not enough evidence about its use in ASD with comorbid ADHD.

Sex Differences in Autism Spectrum Disorder: Focus on High Functioning Children and Adolescents.

Autism Spectrum Disorder (ASD) has historically been studied, known, and diagnosed in males. Females tend to remain unidentified, especially those with average intelligence abilities. This sex/gender difference might be partially explained by biological risk factors, but it is probably also bound to methodological issues.

Methylphenidate in Autism Spectrum Disorder: A Long-Term Follow up Naturalistic Study.

Autism spectrum disorder (ASD) often co-occurs with attention deficit/hyperactivity disorder (ADHD). Although methylphenidate (MPH) efficacy and safety are well-demonstrated for ADHD, evidences are scant in the context of ASD. This naturalistic study aimed to analyze long-term MPH efficacy and safety in 40 ADHD children and adolescents with comorbid ASD, comparing them with 40 ones affected by ADHD without ASD.

Sex-Gender Comparisons in Comorbidities of Children and Adolescents With High-Functioning Autism Spectrum Disorder.

Over the last few years, new studies focused their attention on the gender-related features in high-functioning autism spectrum disorder (HFA), often leading to controversial results. Another interesting aspect of these subtype of patients is linked to the complexity of clinical presentation, where besides core symptoms, other co-occurrence disorders may complicate the diagnostic evaluation. Therefore, we retrospectively studied 159 HFA patients, male and female, investigating their comorbidities and to find any gender difference.

Subtyping the Autism Spectrum Disorder: Comparison of Children with High Functioning Autism and Asperger Syndrome.

Since Hans Asperger's first description (Arch Psych Nervenkrankh 117:76-136, 1944), through Lorna Wing's translation and definition (Psychol Med 11:115-129, 1981), to its introduction in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM, 1994), Asperger Syndrome has always aroused huge interest and debate, until vanishing in the DSM fifth edition (2013). The debate regarded its diagnostic validity and its differentiation from high functioning autism (HFA). The present study aimed to examine whether AS differed from HFA in clinical profiles and to analyze the impact of DSM-5's innovation.

Psychiatric symptoms and quality of life in patients affected by epidermolysis bullosa.

The aim of our study was to provide a psychosocial and psychiatric evaluation of patients with epidermolysis bullosa (EB; a rare genetic disorder characterized by skin fragility), to assess psychological status, ascertain the presence of any psychiatric disorders and understand the impact of EB on quality of life. Twenty-five patients were assessed using a case record form and several standardized instruments. In 82% of patients, EB had a negative impact on quality of life and 80% of patients experienced psychiatric symptoms.

Electrophysiological study in 2 children with transient hypohidrosis induced by topiramate.

Objective: Hypohidrosis, often associated with hyperthermia, has been reported, mostly in children, as a rare and reversible adverse effect of topiramate, an anticonvulsant drug with a broad spectrum of antiepileptic activity. The aim of our study is to detect a possible skin innervation involvement as the mechanism underlying hypohidrosis in children treated with topiramate.

Methods: A neurophysiological study has been performed on 2 children who have developed hypohidrosis under topiramate treatment.

Very early onset and greater vulnerability in schizophrenia: A clinical and neuroimaging study.

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.

Costello syndrome: cognitive and proton magnetic resonance spectroscopy findings--a case report.

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.

Clinical and instrumental (magnetic resonance imaging [MRI] and multimodal evoked potentials) follow-up of brain lesions in three young patients with neurofibromatosis 1.

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.

Megalocornea and mental retardation syndrome: clinical and instrumental follow-up of a case.

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.

Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia.

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.

Brain magnetic resonance spectroscopy in Sydenham's chorea and ADHD.

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.

Channelopathy: hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia.

Paroxysmal dyskinesias are a rare heterogeneous group of neurologic disorders, characterized by transient sudden choreoathetoid or dystonic attacks without loss of consciousness. This study reports a family with six affected members in three generations, and two sporadic cases of paroxysmal dyskinesia. Familial cases of paroxysmal dyskinesia are affected by idiopathic long-lasting paroxysmal exertion-induced dyskinesia and the sporadic cases by idiopathic short-lasting paroxysmal kinesigenic dyskinesia.

ApoE epsilon4 allele and disease duration affect verbal learning in mild temporal lobe epilepsy.

Purpose: To clarify the possible role of other factors including the ApoE epsilon4 allele for memory decline in temporal lobe epilepsy (TLE).

Methods: We conducted a neuropsychological and molecular study in 138 consecutive patients (78 female patients; mean age, 50.2 years, SD +/- 17.

Congenital bilateral perisylvian syndrome with partial epilepsy. Case report with long-term follow-up.

Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder characterised by pseudobulbar palsy, cognitive deficits and epilepsy associated with bilateral perisylvian cortical dysplasia on neuroimaging studies. We report a long-term follow-up of a 18-years girl diagnosed with CBPS according to the typical clinical and magnetic resonance imaging (MRI) features. The patient showed faciopharyngoglossomasticatory diplegia, severe dysarthria, ataxia, spastic quadriparesis and severe mental retardation.

Congenital ataxia and mental retardation in three brothers.

Nonprogressive congenital ataxia is a complex group of disorders caused by a variety of etiologic factors, both environmental and genetic. Hereditary forms represent a substantial part of congenital ataxias, which are difficult to classify because of their phenotypic and genetic polymorphism. Despite the advances in molecular genetics, for most nonprogressive congenital ataxia the etiology is still unknown.