THE QUALITY OF LIFE IN CHILDREN WITH CEREBRAL PALSY

Background: Cerebral palsy (CP) is the most common pediatric disability causing long-term functional limitations. CP remarkably influences the life of those affected and their families. For this reason it is important and necessary to direct attention not only type of the CP, but also the impact the disorder has on the child, parents, siblings and the entire family as a whole. The aim of this study was to assess the impact of CP on the child’s quality of life, considering parents’ perceptions about their child's illness, in order to underline the impact the illness has not only on the child but also his/her family. Methods: The study included both parents of the 36 subjects enrolled (19 mal…

A case of femoral-facial syndrome in a patient with autism spectrum disorders.

The Femoral hypoplasia - unusual facies syndrome (FHUF) or Femoral - facial syndrome (FFS) was at first described in 1975. Up to now about 60 cases have been reported. According to our knowledge only 4 cases have had congenital central nervous system's malformations, furthermore the main stages of psychomotor development are almost always reported as normal or slightly altered in early childhood. We describe the first case of autism spectrum disorders (ASD) in a patient with FFS, emphasizing that this rare association could be one of many unrecognized underlying features.

Orexin system: Network multi-tasking

Orexin system regulates sleep/wake states and its deficiency result in narcolepsy thus indicating the crucial role of orexins in maintaining wakefulness. There are two types of orexin peptides: the orexin-A (OXA or hypocretin 1) and orexin-B (OXB or hypocre- tin 2). The Majority of the central nervous system orexin peptides are synthesized in neurons located in the lateral and back hypotha- lamus and send projections throughout the brain regions Orexin neurons are “multi-tasking” hence regulating also energy homeosta- sis, reward systems and feeding behaviour through connection with hypothalamic nuclei and through responsiveness to leptine and glucose. It has recently been found a connectio…

Autonomic Regulation In Autism Spectrum Disorders

Introduction: The sinactive developmental model provides suggests a different way for the brain study by observing the children behavior. In all neurodevelopmental disorders, we can observe autonomic alteration comprising sleep disorders, meal behaviour alteration and self-regulatory impairment. These alterations/impairment are very frequent in autism spectrum disorders (ASD) (1-12). Aim of the present preliminary study is the assessment of metabolic rate in children affected by ASD. Material s and methods. 5 males affected by ASD aged 7-10 years (mean age 6.73±3:39), were recruited. The average score at the ADOS scale was 12.24 (SD± 3.29). The control group consisted of 5 males typically d…

I disturbi dello spettro autistico

disturbi dello spettro autistico hanno esordio nei primi tre anni di vita e sono caratterizzati da compromissioni qualitative delle interazioni sociali, della comunicazione e da un repertorio limitato, stereotipato e ripetitivo di interessi e di attività. Essi fanno parte dei disturbi del neurosviluppo. I disturbi del neuro sviluppo sono un gruppo di condizioni con esordio nel periodo dello sviluppo e si manifestano prima dell'inserimento nella scuola elementare. Gli ASD sono disturbi dello sviluppo neurologico che possono essere presenti dall'infanzia o dalla prima giovinezza. Il testo è stato chiaramente pensato come sussidio all'insegnamento universitario della Neuropsichiatria Infantile…

Borderline intellectual functioning and parental stress: An italian case-control study

Introduction: Borderline intellectual functioning (BIF) children comprises a group of subjects whit intelligence quotient (IQ) ranging 71-85, with a prevalence about 13.6%. Several studies pinpointed the role of parenting on BIF management. Aim of present study was evaluating with objective and validated tool the parental stress rate in mothers of an Italian sample of BIF children. Materials and methods: 26 BIF children (20 males and 6 females) aged 6-10 years (mean age 10.36± 2.03), according to DSM-5 criteria, and 53 (42 males and 11 females) typical developing children (mean age 10.58 ± 1.97) were recruited for present study. Mothers of all enrolled children underwent an evaluation with …

Carbohydrate-deficient glycoprotein syndromes: The Italian experience

EMotional Intelligence And Obstructive Sleep Apnea Syndrome In Children: Preliminary Case-Control Study

Introduction: Obstructive sleep apnea syndrome (OSAS) affects up to 4% of pediatric population, with many co-morbidities in the medium-long term. Functional alterations in prefrontal cortex (PFC) may explain why OSAS impacts aspects such as: executive functions, memory, motor control, attention, visual-spatial skills, learning and mood regulation. Emotional intelligence (EI) is a complex neuropsychological function that could be impaired in many clinical conditions. Aim of the study is to evaluate the difference in emotional intelligence skills among children with OSAS and healthy subjects Materials and methods: 29 children (16 males) mean age 9.5 ± 1.54 years, affected by OSAS were compare…

A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation

“La funzione simbolica in bambini con epilessia e cefalea”

Sensory perception in preschool children affected by autism spectrum disorder: A pilot study

Introduction: Autism spectrum disorder (ASD) is a behavioral syndrome caused by a developmental disorder, biologically determined, with onset in the first three years of life. The areas concerned are mainly those related to social communication, social interaction and mutual functional and symbolic play. In the last decades, different conceptions of autism have taken, also emphasizing different sensory-perceptual abnormalities as the basis of the central features of disorder. This pilot study intends to address the issue of sensory perception in preschool children affected by ASD. Material and methods: 11 ASD children were enrolled (7 males, 4 female) aged between 2.3 years and 4.6 years, (…

Anxiety levels in mothers of children affected by x-fragile syndrome

Introduction: Anxiety is the psychological process by which the individual reacts to dangerous external stimuli, triggering responses (mediated by norepinephrine, GABA and serotonin) involving physiological reactions and cognitive strategies. Anxiety can be differentiated in state anxiety and trait anxiety. Fragile X Syndrome (FXS) is a disorder most commonly caused by a triplet repeat expansion of > 200 cytosine-guanine-guanine (CGG) repeats in the 50 untranslated region of the Fragile X mental retardation 1 (FMR1) gene. Aim of the present study is investigating the state or trait anxiety in a sample of mothers of children affected by X-fragile. Materials and methods: 84 mothers (mean age …

Can eadache impair intellectual abilities in children? An observational study

Background: The purpose of this study was to assess the cognitive functioning of children affected by headache, pinpointing the differences in intelligence style between subjects affected by migraine without aura and subjects with tension-type headache. Methods: The study population consisted of 147 children (mean age 10.82 ± 2.17 years) with headache, recruited from the Headache Center for Developmental Age, Child and Adolescent Neuropsychiatry Clinic, Second University of Naples. Cognitive profiling was performed using Weschler Intelligence Scale for Children Third Edition throughout the sample. According to the International Classification of Headache Disorders II criteria for pediatric …

Executive functioning in autism spectrum disorders: a case-control study in preschool children.

Background: Autism spectrum disorders (ASD) are neurobehavioral and developmental conditions that include impairments in a triad of behavioral domains: social development, communication and repetitive behavior/obsessive interests. This case-control study aims to assess executive functioning in ASD preschoolers. Methods: A sample of 50 children participated in the study (24 males and 26 females; age ranged between 2.7 and 3.5 years). The study sample was subdivided into two groups: 25 ASD children and 25 typically developing children as a control group. All participants were administered the BRIEF-P test to assess executive functioning. Results: The two groups were counterbalanced for age an…

Mind, brain and altered states of consciousness

The consciousness is the expression of an enormous and complex variety of neurobiological events, phenomenological and psychological that, from the early stages of development, prepare the emergence soil of the Self. It is a complex of tangible and intan- gible characters distinct from one another - neural infrastructure, awareness, temporality, qualitative subjectivity, intentionality - to such an extent as to seem welded faces of the same prism. Consciousness is not a simple function of the mind, but its organization. In this paper we intend to show how its order is not strictly hierarchical, but sustained by multiple horizontal levels, each of which in a structural and functional continu…

Primary nocturnal enuresis and learning disability

"AIM: Primary nocturnal enuresis (PNE) is the most common sleep disorder in developmental age, with a prevalence of 6-10% between 5 and 16 years of age, impacting on normal emotional and relational developing. Assessing the prevalence of mild learning disorders in enuretic children and the role of enuresis as risk factor to develop them.. . METHODS: Twenty-five patients (14 males) aged 7.59 referred for primary nocturnal enuresis to Sleep Disorder Center for developmental age and Nocturnal Enuresis of Second University of Naples (frequency ≥3\/week), were enrolled in study. Reading abilities were evaluated using MT (Memory and Learning Transfer) and cognitive performance was assessed using …

The quality of life in developing age children with celiac disease

The moments that follow the diagnosis of celiac disease and the early stages of the gluten-free diet are extremely difficult and complex for parents and child, because they face an important change punctuated by self-denial and deprivation. The main objective of this research is to assess the impact of celiac disease on quality of life in subjects in developmental age, taking into account the perceptions of parents about the child's illness, with the aim to highlight the effect of disease on the child and the entire family.The study included both parents of 45 children aged between 2 and 10 years, with established celiac disease. To evaluate the effect of celiac disease on the lifestyle of …

Executive functioning in preschool children affected by autism spectrum disorder: A pilot study

Introduction: Autism spectrum disorders (ASD) are a complex set of neurological dysfunction and development characterized by deficits in social and non-verbal interaction. Few studies have explored the executive functioning in ASD preschoolers. The aim of this pilot study is the assessment of executive functioning in preschool children with ASD. Material and methods: 8 ASD children (7 males, 1 female) mean age 3.09 (SD ± 0.83 years) were enrolled in the study and compared with a control group of 15 typically developing children (12 males, 3 females) (mean age 24.3 ± 0.61). All subjects underwent assessment of executive functioning with the BRIEF-P test. Results: The two groups were matched …

Nocturnal obstructive respiratory events severity is associated with low parental quality

Objective: Despite of the large prevalence of obstructive sleep apnea syndrome (OSAS) in pediatric age, numerous aspects of its impact on day life and on parental quality are still poor studied and considered in the clinical management. The study evaluated the stress levels and copying styles in a large sample of mother of children with OSAS. Method: 374 mothers of children affected by OSAS (mOSAS) were compared with a group of mothers of 421 neurotypical healthy children (mTDC) for stress perceived stress levels and for coping strategies. Subjects were recruited from Italian Regions in Sicily, Campania, Calabria and Umbria. Results: Among both groups mOSAS and mTDC no differences were repo…

LA SINDROME DI RETT. RISVOLTI CLINICI E SOCIALI.