Psychological aspects in children affected by duchenne de boulogne muscular dystrophy.

2012

Impairment of intelligence in Duchenne muscular dystrophy (DMD) patients was described by Duchenne de Boulogne himself in 1868. Further studies report intelligence disorders with mayor impairment of memory. The aim of the present study was to assess the presence of affective and personality disorders in a group of children affected by DMD. Twenty six male DMD patients, mean age eleven and four months years old, were assessed for their affective and personality disorder. Only eight subjects had a total IQ below average with major difficulties in verbal and visual-spatial memory, comprehension, arithmetic and vocabulary. All the subjects presented some disorders: tendency to marginalization a…

Sturge-Weber syndrome: a report of 14 cases

2013

Sturge-Weber-Krabe syndrome (SWS), also known as encephalotrigeminalangiomatosis and named the forthfacomatosis, recall the names of the authors who first describedit in its basic clinical, radiological andanatomopathological aspects. We report here 14 cases of Sturge-Weber disease. In 6 of these, despite what had been previously described in literature, an extension of the angioma has been noted in other parts of the body. The study of these subjects stresses not only the need for a pharmacological/neuropsychomotor intervention, but alsothe need of a psychotherapeutic approach, for the emotional and affective implications thatcould derive from this syndrome. The reported cases are similar …

Autism spectrum disorders in children affected by Duchenne muscular dystrophy

2018

Background Duchenne muscular dystrophy (DMD) is the most frequent and severe form of the dystrophinopathies. The literature shows that about 30-40% of DMD subjects have intellectual disability. In males with Duchenne muscular dystrophy, neuropsychiatric disorders have also been observed: attention deficit disorder and hyperactivity, autism spectrum disorders, and obsessive-compulsive disorder. Duchenne muscular dystrophy is not just a muscle disorder, but also a disease that affects the brain. The aim of the present study was to describe a case series of children with Duchenne muscular dystrophy that have also the presence of autism spectrum disorders (ASDs). They have been assessed by mean…

Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome

2015

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the pro…

The quality of life in girls with Rett syndrome

2016

Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families…

Sleep habits in children affected by autism spectrum disorders: A preliminary case-control study

2017

Introduction: The core of autism spectrum disorders (ASD) consists of alterations of neurological functions that affect the typical developmental trajectory leading to deficits in social interaction and non-verbal behaviors. In general, ASD is diagnosed at age three and many other frequent neurological signs may be present, such as sleep disorders. The aim of study is evaluating sleep habits in a sample of ASD children. Material and methods: The study population consists of 65 ASD children (43 males and 22 females), aged between 2 and 11 years (mean 5.73 ± 2.39 years). The control group consists of 114 children with typical development (68 males and 46 females), aged between 3 and 10 years …

Anabolic steroid abuse and dependence: psychiatric effects in adolescents and young adults

2009

DISTURBO MOTORIO E QUALITA' DELLA VITA. VALUTAZIONE DELLA QUALITA' DELLA VITA IN BAMBINI CON PARALISI CEREBRALI

2008

Evaluation of creative thinking in children with epilepsy.

2011

Neuropsychological Assessment In Children With Duchenne De Boulogne Muscular Dystrophy

2006

The quality of life in the girls with Rett Syndrome

2008

The child with Autism Spectrum Disorders (ASDS): Behavioral and neurobiological aspects

2015

Introduction: The Autism Spectrum Disorders (ASDs) have onset in the first years of life and are characterized clinically by qualitative impairments in social interaction, communication and a restricted repertoire, stereotyped and repetitive interests and activities. Currently there is a medical consensus on the causes of autism: they should not be psychosocial but should be based in biology, especially in the central nervous system abnormalities caused by both inherited and environmental causes. The aim of this study was to study a sample of subjects with Autism Spectrum Disorders (ASDs) with a wide protocol, including neurophysiological and radiological investigations as well as laborator…

Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases

2015

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a rare genetic disorder first diagnosed in 1981. Kabuki make-up syndrome (KMS) is a multiple malformation/intellectual disability syndrome that was first described in Japan but is now reported in many other ethnic groups. KMS is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; intellectual disability; and short stature. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. The KS is associated wi…

Infantile autism and Duchenne de Boulogne Muscular Dystrophy

2006

DESCRIPTION AND EVALUATION OF CREATIVE THINKING IN PRETERM LOW BIRTH WEIGHT INFANTS.

2007

AIM: Since the 1950s, the problem of how to evaluate creativity has been addressed in studies on the definition of measurement criteria and on the relationship between intelligence and creative thinking. Many revealed cognitive and relational disorders in preterm infants, particularly in preterm very low birth weight infants (birth weight 2500 g. The test battery included: Torrance Test of Creative Thinking (TCTT); WISC-R intelligence test; Goodenough Human Figure Drawing Test. RESULTS: Statistical analysis (Mann-Whitney U test) showed a statistically significant difference (P>0.05) between the 2 groups; scores for figure originality, figure fluidity and figure elaboration were consistently…

Life events and primary monosymptomatic nocturnal enuresis: A pediatric pilot study

2017

Introduction: The association between primary monosymptomatic nocturnal enuresis (PMNE) and behavioral disorders was highlighted frequently, suggesting psychiatric origin. On the other hand, there is no difference between the incidence of mental disorders in children with PMNE and controls, although the psychological genesis could provide additional secondary forms, in which the child might react to stressful events with the resumption of involuntary urination at night, with a possible alteration of bowel control due to a high vulnerability to stressors. The purpose of this study is assessing the stressful events of life in a sample of children with PMNE. Materials and methods: 56 subjects …

The Impact of Celiac Disease on Quality of Life in Subjects in Developmental Age.

2011

The angelman syndrome: A brief review

2017

Angelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients' features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe.

Merosin-deficient congenital muscular dystrophy.

2006

Memory deficit of children with Duchenne muscular dystrophy

2007

Several studies on intelligence of children suffering from Duchenne muscular dystrophy (DMD) found impairments in linguistic functions and memory. Memory deficit mainly involves long-term memory; short-term memory impairment was also present, even if less frequently. Some studies tried to establish a correlation between the distal deletion of the dystrophin gene and low intelligence levels. The present study investigated the neuropsychological performance in a group of DMD children (26 subjects); neuropsychological tests included: Wechsler intelligence scale for children-revised; Raven’s progressive matrices test; Rey’s complex figure test; memory and digit span tests; Benton’s visual reten…

The transcranial stimulation with direct currents (tdcs): An historical and conceptual minireview

2018

Transcranial Stimulation with Direct Currents (tDCS) is a method for non invasive brain stimulation created to induce functional changes in cerebral cortex. tDCS consists of application on the scalp of electrodes providing a low intensity direct current influencing neuronal functions. tDCS is not the only neurostimulation method for neuroscience clinical practice and research and can be used for treat many different clinical conditions such as migraine prevention, autism spectrum disorders (ASD), cerebral palsy rehabilitation, post-traumatic brain injury neuropsychological disorders.

Ketogenic diet as antiepileptic therapy: Neurotrasmission effects

2017

The Ketogenic diet (KD) presents many effects on neurostrasmitters pathways. KD may act on potassium channels sensitive to ATP (KATP), inhibiting rapamycin pathway in mammalians or glutamatergic synaptic transmission or mediated by peptide hormones.

DISTURBI DELLO SPETTRO AUTISTICO E QUALITA' DELLA VITA

2008

Dystrophie Musculaire de Duchenne de Boulogne:analyse neuropsychologique

2007

Risk behaviors among young people. Evaluation and descriptive analysis.

2006

AIM: Risk behaviours--as they are defined by specialist literature for the damage these behaviours cause to young people's health and/or life--are getting more and more frequent among young people. They range from self-injuring behaviours to the consequences of a precocious, high-risk and/or promiscuous sexual activity, from abnormal eating behaviours to the deaths from fun. METHODS: The inquiry concerned a group of university students (100 males and 100 females), selected at random from the Faculties of Medicine and Surgery, Psychology, Economy and Jurisprudence of the University of Palermo, who were asked to answer a questionnaire composed of 91 questions and structured in 4 sections. The…

Anabolic steroid abuse and dependence: risk factors of the use of drug and psychoactive substances

2009

La percezione del soggetto epilettico tra riti antichi e rituali moderni attraverso lo studio degli ex-voto.

2012

Memory deficit in children with Duchenne muscular dystrophy

2007

Ketogenic diet as antiepileptic therapy: Historical perspective

2017

Ketogenic diet (KD) is a high-lipid diet, adequate for protein content but low in carbohydrates content. Caloric intake is calculated on the basis of the ideal patient's needs, reduced by about 20%, and is about 90% of lipids present in 3: 1 or 4: 1 ratio with proteins and carbohydrates. KD is considered the most ancient antiepileptic therapy, actually proposed also for migraine therapy.

Paternal shift-working and sleep disorders in children affected by primary nocturnal enuresis

2017

Objectives: Primary monosymptomatic nocturnal enuresis (PMNE) is a common problem in childhood and studies about the sleep habits of affected children are not conclusive. Work-family conflict (WFC) results from the incompatibility between family demands and business/workplace needs. WFC can impact parental quality with many consequences on children health. Aim of study is assessing the prevalence of sleep disturbances in enuretic children, sons of work-shifters. Materials and methods: 80 children (67 males) aged 5-13 years (mean 10,43; SD ± 1,99), were consecutively referred for PMNE. Sleep habits were investigated with Sleep Disturbances Scale for Children (SDSC) and the results were compa…