L’UTILIZZO IN MEDICINA LEGALE DELLA MISURAZIONEDELLA SALUTE DEL MINORE SECONDO ICF-CY: ESEMPLIFICA-ZIONE CASISTICA

The evaluation of minors within welfare contest requires an adequate multidisciplinary and interdisciplinary approach to clinical and psycho-social order. There are many evaluation’s instruments, but in the medico legal context particularly useful is the evaluation according to the guidelines of the World Health Organization, in the recent codification ICF, International Classification of Functioning, Disability and Health [1] version YC (Children and Youth) [2]. The use of minor measurement according to ICF-CY is here reported in a child’s health experience with neuropsychiatric disorders. The system ICF-CY offers a revolutionary new model that relates biological, psychological and social …

L'associazione tra il Disturbo da deficit di attenzione con iperattività e i Disturbi della Condotta nei pubero-adolescenti inseriti presso l'Istituto Penale Minorile "Malaspina" di Palermo

Il sottile confine fra neuropsicologia e psicopatologia: un'indagine preliminare condotta attraverso il test delle macchie di inchiostro di Rorschach

Possibili conseguenze sui bambini nei divorzi critici: il ruolo dei genitori e del sistema giuridico

La condivisione degli spazi in una società multiculturale.

Juvenile sex offender: experience of intervention in an Italian juvenile correctional institution

Il tempo del sociale nell'adolescenza

Ethical issues of child sexual abuse in forensic psychiatry.

L'alcoolismo in età infantile ed adolescenziale: il passaggio dall'uso alla dipendenza

Resolution of enuresis with aripiprazole in children with psychiatric disorders: two case reports

Abstract Background Aripiprazole is a third-generation atypical antipsychotic drug that acts as a stabilizer of the dopaminergic and serotonergic system. As partial agonist of the dopamine (D2) and serotonin (5-HT1A) receptors, it appears to be effective in reducing mania in patients with bipolar disorder, tics in Tourette Syndrome, aggression in schizophrenia and autism spectrum disorder. Enuresis has been reported among its side effects. Only a few studies, with conflicting results, have investigated the relationship between aripiprazole and enuresis. Case presentation We report the disappearance of enuresis in a Caucasian girl with intellectual disability and oppositional defiant disorde…

Lo spazio di ascolto per gli adolescenti: un viaggio attraverso i luoghi dove esprimono il loro disagio.

Efficacy And Tolerability of Acetazolamide in Migraine Prophylaxis and Klinefelter Syndrome: A Case Report

P390 Efficacy and Tolerability of Acetazolamide in Migraine Prophylaxis and Klinefelter Syndrome: A Case Report R. Nardello1, P. Glorioso1, M. Saladino1, M. Moscarelli1, A. Fontana1, S. Mangano1 1Dipartimento di Scienze per la Promozione della Salute e Materno Infantile ‘‘G. D’Alessandro’’, University of Palermo, Palermo, PA, Italy. Objectives: We describe an interesting case of migraine headaches with aura in a 47, XXY male Klinefelter Syndrome (KS) intreatment with Acetazolamide and resolutionof symptoms. Background: A 16-year-old boy presented to the outpatient clinic migraine headaches throbbing, onset evening that lasts for a week and is presented once a month with aura, associated wit…

Headache and epilepsy:two cronic disorders with clinical comorbidity

Nuove strategie terapeutiche sull'abuso di alcool in età adolescenziale

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.

Efficacy of levetiracetam in the treatment of drug-resistant Rett Syndrome.

Rett syndrome (RTT) is a progressive neurological disorder characterized by a wide spectrum of phenotypes. Epilepsy is reported to occur in 50–90% of patients with RTT; some develop medically refractory epilepsy. The aim of this study is to investigate the efficacy of levetiracetam (LEV) in drug-resistant patients with RTT. This prospective, pragmatic, open-label study consisted of an 8-week baseline period and a 6-month evaluation period. Efficacy variable was the mean frequency of monthly seizures before, and after 3 and 6 months of treatment with LEV. Eight female patients, aged 7.5–19 years (M12.8 ± 5) entered the study. Mean age at epilepsy onset was 25.8 ± 14.1 months. All patients sh…

De novo GRIN2A variants associated with epilepsy and autism and literature review

N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…

Spasmi infantili e Malattia di Krabbe: descrizione di un caso clinico

Ethics and education of psychiatrists dealing with mentally disordered young patients offenders in a detention setting

Medico legal procedures related to sexual assault: a 10-year retrospective experience of a Daphne protocol application

Background: Sexual assault is a worldwide problem that has not yet been sufficiently acknowledged as confirmed by the literature. Italian law n.96, 1996, foreseeing norms regarding rape and sexual abuse, finally gave significant relevance to sex crimes. In 2004, the European Commission for Justice Internal Affairs and Social Politics promoted the Daphne II program to support victims of rape and abuse, and the Violence and Operative Healthcare Networks (Ve.R.S.O.) project started at the Policlinico “P. Giaccone” University Hospital of Palermo in 2006. Aim: data analysis emerging from 10 years experience of Daphne protocol utilization for the management of sexual assault victims. Methods:…

Additional file 1 of A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

Additional file 1: Detailed information about genetic tests.

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.

Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal neurological outcome, but recently, refractory seizures and/or developmental disability have been reported suggesting phenotype variability associated with KCNQ3-related BFNE. Here, we describe a proband from a BFNE family carrying a novel variant in the KCNQ3 gene. Regarding the paucity of data in the literature, we describe the presented case with a view to further establishing: (1) a genotype/phenotype correlation in order to define a BFNE phenotype associated with favourable outcome; (2) a…

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features. By contrast, only few KCNQ3 mutations have been rarely described, mostly in patients with typical BFNS. We report clinical, genetic, and functional data from a family in which early onset epilepsy and neurocognitive deficits segregated with a novel mutation in KCNQ3 (c.989G>T; p.R330L). Electrophysiological stu…

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? is an age-dependent epilepsy with onset peak in the first year of life. According to the ILAE classification, the etiology of WS could be symptomatic or cryptogenic. An idiopathic etiology was considered too. In literature, there was never previously described a transition from WS to JME. Methods: The proband, (male) was referred to our Department at the age of 8 months because he showed clusters of symmetric spasms. Interictal EEG recording displayed an hypsarrhythmic pattern. The clinical and EEG data suggested WS diagnosis. At 1 year of age increasing long and thick hair in both elbow regions was observed. …

Ethical problems related to the management of the incarcerated juvenile immmigrants with psychiatric problems in the Italian prisons

Sexual Abuse-Current Medico-legal, Forensic and Psychiatric Aspects

Abstract Violence against women and minors is a worldwide problem that has not yet been sufficiently acknowledged. There are many obstacles especially when sexual abuses have to be evaluated. These problems are present both when victims of sexual abuse are evaluated and when sex offenders are dealt with, especially when the offenders are juvenile sex offenders (JSO). These issues give cause for great concern about prognosis, and the resulting psychosocial implications, and call for a special effort from the scientific community in identifying appropriate prevention and treatment methods. This chapter is divided into two parts. The first part deals with the forensic and psychiatric features,…

The treatment of juvenile sex offender: a review of literature.

Adolescent Deviance and Criminal Responsibility in the Italian Judicial System

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

Background: West syndrome is an age-dependent epilepsy with onset peak in the first year of life whose aetiology may be symptomatic or cryptogenic. Long-term cognitive and neurological prognosis is usually poor and seizure outcome is also variable. Over the past two decades a few patients with favourable cognitive outcome and with total recovery from seizures were identified among the cryptogenic group suggesting an idiopathic aetiology. Recent research has described two children with idiopathic WS who later developed a childhood absence epilepsy. Case presentation: We reviewed the medical records of patients with West syndrome admitted to the our Child Neuropsychiatry Unit in the last 15 y…

IL LEVETIRACETAM IN MONOTERAPIA NEL TRATTAMENTO DELL’ EPILESSIA FARMACORESISTENTE IN UNA PAZIENTE CON SINDROME DI RETT

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability

Abstract The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It has been reported that WDR62 is the second causative gene of autosomal recessive microcephaly (MCPH2) playing a significant role in spindle formation and the proliferation of neuronal progenitor cells. We report a clinical feature, electroclinical findings, and clinical course of a patient with a severe phenotype of MCPH2 including microcephaly, refractory infantile spas…

EFFICACIA DEL SULTHIAME NEL TRATTAMENTO DI CRISI FOCALI FARMACORESISTENTI IN UN SOGGETTO CON SCLEROSI TUBEROSA

I fratelli dei soggetti portatori di handicap: una revisione della letteratura attraverso la discussione di un caso clinico.

Ansia e depressione in bambini e adolescenti con epilessia del lobo frontale e temporale: risultati preliminari di uno studio caso-controllo

Efficacia della terapia con zonisamide in add-on nel trattamento dell’epilessia farmaco-resistente in un paziente con polimicrogiria e pattern CSWS

Efficacia del Sulthiame nel trattamento di crisi focali farmacoresistenti in un soggetto con Sclerosi Tuberosa

Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.

Abstract Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder including developmental delay/intellectual disability (DD/ID), hypertrichosis cubiti, short stature, and distinctive facial features, caused by mutation in KMT2A gene, which encodes a histone methyltransferase (H3K4) that regulates chromatin-mediated transcription. Different neurodevelopmental phenotypes have been described within the WDSTS spectrum, including a peculiar Autism Spectrum Disorder (ASDs) subtype in some affected individuals. Here, we report a 9-year-old Caucasian male found by next-generation panel sequencing to carry a novel heterozygous de novo KMT2A frameshift variant (NM_001197104.2:c.4433delG; p. Arg1…

Valutazione dell’efficacia e della tollerabilità del sulthiame in bambini con epilessia farmacoresistente: osservazioni preliminari

Identità e corporeità nell'adolescente immigrato

Esperienze preventive e proposte dell'intervento

Migraine in children under 6 years of age: A long-term follow-up study

Abstract Background Early starting of migraine seems predictive for less favorable outcome in later ages, however follow-up investigations are very few and all with short-term prospective period. We report here the longest follow-up study in a population of children presenting with migraine under the age of 6. Methods We followed-up 74 children under 6 years of age, referred for headache to our department between 1997 and 2003. The study was carried out between October 2016 and March 2018. Headache diagnoses were made according to the IHS criteria. Results 23/74 patients, 31% of the original cohort, were found at follow-up in a period ranging between 15 to 21 years after the first visit. Se…

nota introduttiva su “Seminari di Promozione ed Educazione alla Salute: Atti del III ciclo”

I disturbi alimentari: anoressia e bulimia.

According to the Italian Judicial System, a child under 14 years of age is not criminally responsible. A minor, less than 18 but over 14 years old, can bear criminal responsibility only if competent. This paper discusses some of the clinical aspects of establishing sanity/competency (‘compos mentis’) or insanity/ incompetency (‘non compos mentis’) and the legal and clinical implications of declaring an adolescent offender insane – Can he/she be imprisoned? Hospitalized? Should he/she be treated any differently than a non minor under the same circumstances?

Il bullismo

La presa in carico dei child molester in un carcere minorile

Ethical Problems Related to the Management of Young Immigrant detainees with Psychiatric disorders in Italian Prisons.

The number of foreigners in Italian minor prisons is quite large and it varies in relation to the geographical position. First of all, we must clarify a few points: a minor prison is a judicial system of detention for people between 14 and 21. Before the age of 14, teenagers cannot be put on trial in Italy. In the minor prison of Palermo the 40-50% of the detainees are people coming from Tunisia, Morocco, Algeria, Egypt, but young people from Southern America, Albania and Romany are present too. Albanians and Romanians move to eastern Italy, usually. The immigrant detainees are often illegal refugees or children of a first generation of immigrants who easily deviate from law in order to sur…

Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?

Abstract Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the most mutated gene detected in families with BFIE, other mutations in KCNQ2, SCN2A, and GABRA6 genes have also been described. To date, KCNQ3 mutations have been detected in only four patients with BFIE. Here, we describe the clinical pattern and course of an additional individual with BFIE associated with a novel missense heterozygous KCNQ3 c.1850G>C variant inherited by his unaffected father. The incidence of KCNQ3 mutations among BFIE patients…

Il tempo e le opportunità di aggregazione

Levetiracetam during 1-year follow-up in children, adolescents, and young adults with refractory epilepsy

Purpose: To evaluate the efficacy and safety of levetiracetam (LEV) in refractory crypto/symptomatic, partial or generalised epilepsy in children, adolescents and young adults. Methods: We performed a prospective open label add-on study in 99 patients (age 12 months to 32 years, mean 14 years) with partial or generalised, crypto/symtpomatic seizures. Levetiracetam was added to no more than two baseline AEDs and the efficacy was rated according to seizure type and frequency. Results: LEV was initiated at the starting dose of 10 mg/kg/day with 5-day increments up to 50 mg/kg/day, unless it was not tolerated. Concomitant therapy was generally not modified throughout the study. After a mean fol…

INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION

INTELLECTUAL DISABILITY, EPILEPSY, MILD DYSMORPHISMS, 22q11.2 DISTAL DUPLICATION

Alcool e giovani

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities

Fragile X syndrome (FXS; MIM 300624) is an X-linked genetic disorder characterized by physical abnormalities associated with intellectual disability and a wide spectrum of neurological and psychiatric impairments. FXS occurs more frequently in males, 1 in 5000 males and 1 in 8000 females accounting for 1-2% of overall intellectual disability (ID). In more than 99% of patients, FXS results from expansions of a CGG triplet repeat (>200 in male) of the FMR1 gene. In the last years an increasing number, albeit still limited, of FXS subjects carrying FMR1 mutations including deletions, splicing errors, missense, and nonsense variants was reported. Nevertheless, the studies concerning the func…

A new case of Worster-Drought syndrome

Introduction: Worster-Drought syndrome (WDS) consists of a congenital pseudobulbar palsy and is usually associated with spastic tetraplegia, learning impairment, behavioural problems, and epilepsy. Congenital bilateral perisylvian syndrome (CBPS) is characterized by bilateral perisylvian polymicrogyria on imaging. Clark et al, have previously proposed a WDS spectrum that includes CBPS, speculating that it may be due to malformation of the perisylvian region due to various perinatal or congenital causes, whether demonstrable on imaging, or functional and not visible with current imaging techniques. Worster-Drought suggested that the syndrome is probably a developmental defect of the motor tr…

Superior sagittal sinus thrombosis and headache: case report

Neuroethics as a new field of research.

Pediatric haedaches epidemiology in emergency department during COVID-19

Background and aims Recent studies have showed that in emergency department (ED) pediatric admissions for headache are increasing in the last years. However Covid-19 pandemic may have changed the use of health services for several reasons. Aim of this study is to analyze the rates of admission for pediatric headaches in ED before and during Covid19 Pandemic. Methods we have collected retrospectively the records of children (range of age 5–14) admitted on ED in 2012, 2019 and 2020. We selected the records including Headache and Headache associated to other symptoms (vomit, fever, dizziness, etc.), collecting further the use of computed tomography (CT) and neurological consultation. Results I…

Neuropeptides’ Hypothalamic Regulation of Sleep Control in Children Affected by Functional Non-Retentive Fecal Incontinence

Functional non-retentive fecal incontinence (FNRFI) is a common problem in pediatric age. FNRFI is defined as unintended loss of stool in a 4-year-old or older child after organic causes have been excluded. FNRFI tends to affects up to 3% of children older than 4 years, with males being affected more frequently than females. Clinically, children affected by FNRFI have normal intestinal movements and stool consistency. Literature data show that children with fecal incontinence have increased levels of separation anxiety, specific phobias, general anxiety, attention-deficit/hyperactivity disorder (ADHD), and oppositional defiant disorder. In terms of possible relationship between incontinence…

Septo-optic dysplasia and schizencephaly: a case report

Introduction: Septo-optic dysplasia (SOD) is an uncommon developmental disorder involving variable midline brain structures, characterized by optic nerve hypoplasia, dysgenesis of septum pellucidum and pituitary- hypothalamic dysfunction with consequent endocrine deficits. The association of septo-optic dysplasia and cortical dysplasia is described as septo-optic dysplasia-plus. Reports on patients with septo-optic dysplasia-plus have been rare. Other distinct features, which occur especially when cerebral cortical abnormalities are also present (SOD- plus), consist of significant generalized developmental delay and/or spastic motor deficits. Methods: We report a 10-year-old boy with septo-…

Epidemiologia dell'abuso di alcool in età dello sviluppo

Cefalea e Sindrome di Klinefelter: quale correlazione?

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy

BACKGROUND: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. The objective of this study was to reconstruct the pedigree of Italian dentatorubral-pallidoluysian atrophy familial cases describing their clinical features. METHODS: We investigated 6 apparently unrelated dentatorubral-pallidoluysian atrophy families comprising a total of 51 affected individuals: 13 patients were clinically examined, and for 38 patients clinical data were collected from clinical sources. The dentatorubral-pallidoluysian atrophy diagnosis was genetically confirmed in 18 patients. Genealogical data from historical archives were ana…

Use and “abuse” of psychotropic drugs in the adolescent offenders inmates

Ethical aspects of psychotherapeutic and pharmacological treatment of the juvenile sex offender

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay…

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

Abstract Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. Case presentation We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of bot…

MATERNAL EXPOSURE TO STRESSFUL/TRAUMATIC EVENTS AND AUTISM SPECTRUM DISORDERS IN OFFSPRING: PRELIMINARY FINDINGS OF A CASE CONTROL PILOT STUDY.

The correlation between maternal exposure to stressful and traumatic events during pregnancy and autism spectrum disorder (ASD) in offspring has been studied in the literature. Fewer studies, however, have considered the mother's exposure to traumatic events during childhood. This work focuses on maternal exposure to these events in childhood and/or adulthood, relating it to autism spectrum disorder in offspring. A questionnaire was used to assess whether and to what type of event the mothers have been exposed, and to assess eventual peri-traumatic dissociation related to the traumatic event. The mothers involved in this study were recruited at the Child Neuropsychiatry Outpatient Clinic of…

Problematiche etiche relative al trattamento sanitario obbligatorio.

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

Abstract Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migraine), EA2 (Episodic Ataxia type 2), and SCA6 (Spinocerebellar Ataxia type 6). Overlapping clinical features within individuals of some families sharing the same CACNA1A mutation are not infrequent. Conversely, reports with distinct phenotypes within the same family associated with a common CACNA1A mutation are very rare. Case presentation A clinical, molecular, neuroradiological, neuropsy…