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Lucia Margari
Ruolo
Professore Ordinario
Organizzazione
Università degli Studi di Bari Aldo Moro
Dipartimento
DIPARTIMENTO DI SCIENZE BIOMEDICHE ED ONCOLOGIA UMANA
Area Scientifica
AREA 06 - Scienze mediche
Settore Scientifico Disciplinare
MED/39 - Neuropsichiatria Infantile
Settore ERC 1° livello
Non Disponibile
Settore ERC 2° livello
Non Disponibile
Settore ERC 3° livello
Non Disponibile
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
OBJECTIVES: The objective of this study was to investigate the role that psychopathological dimensions as overt aggression and impulsivity play in determining suicide risk in benign chronic pain patients (CPPs). Furthermore we investigated the possible protective/risk factors which promote these negative feelings, analyzing the relationship between CPPs and their caregivers. METHODS: We enrolled a total of 208 patients, divided into CPPs and controls affected by internistic diseases. Assessment included collection of sociodemographic and health care data, pain characteristics, administration of visual analog scale (VAS), Modified Overt Aggression Scale (MOAS), Barratt Impulsiveness Scale Version 11 (BIS), Hamilton Depression Rating Scale (HDRS), and a caregiver self-administered questionnaire. All variables were statistically analyzed. RESULTS: A significant difference of VAS, MOAS-total/verbal/auto-aggression, HDRS-total/suicide mean scores between the groups were found. BIS mean score was higher in CPPs misusing analgesics. In CPPs a correlation between MOAS-total/verbal/auto-aggression with BIS mean score, MOAS with HDRS-suicide mean score and BIS with HDRS-suicide mean scores were found. The MOAS and BIS mean scores were significantly higher when caregivers were not supportive. CONCLUSION: In CPPs, aggression and impulsivity could increase the risk of suicide. Moreover, impulsivity, overt aggression and pain could be interrelated by a common biological core. Our study supports the importance of a multidisciplinary approach in the CPPs management and the necessity to supervise caregivers, which may become risk/protective factors for the development of feelings interfering with the treatment and rehabilitation of CPPs.
Objective: An association between streptococcal infections, ABGA positivity, and no comorbidity ADHD (nc-ADHD) has been little investigated. The aim of this study was to evaluate the streptococcal infection frequency, defined entitled serum antistreptolysin O (ASO), and frequency of serum ABGA positivity in a sample of patients with nc-ADHD. Method: In all 40 participants were investigated the ASO titer and ABGA. Results: The results showed that ABGA positivity was statistically significantly higher in patients affected by ADHD than in patients of a control group, and pathological values of ASO were statistically more frequent in the ADHD group than the control group. Conclusion: These data suggest that streptococcal infections and autoimmune reactions against the basal ganglia are more frequent in ADHD patients than patients in a control group.
OBJECTIVE: This study was conducted to assess the long-term effect of methylphenidate (MPH) or atomoxetine (ATX) on growth in attention-deficit/hyperactivity disorder (ADHD) drug-naïve children. DESIGN: The study was an observational, post-marketing, fourth phase study. METHODS: Data on height and weight were collected at baseline and every 6 months up to 24 months. RESULTS: Both ATX and MPH lead to decreased height gain (assessed by means of z-scores); the effect was significantly higher for ATX than for MPH. At any time, height z-score decrease in the ATX group was higher than the corresponding decrease observed in the MPH group, but the difference was significantly relevant only during the first year of treatment. An increment of average weight was observed both in patients treated with MPH and in those treated with ATX. However, using Tanner's percentile, a subset of patients showed a degree of growth lower than expected. This negative effect was significantly higher for ATX than for MPH. CONCLUSIONS: We conclude that ADHD drugs show a negative effect on linear growth in children in middle term. Such effect appears more evident for ATX than for MPH.
Abstract Abnormalities of the sex chromosomes (47, XXY, 47 XYY, 45,X/46,XY mosaicism) are frequently associated with Autism Spectrum Disorders (ASD), but the male predisposition to these disorders has not been clearly explained. Previously, the role of the X chromosome was considered important in the ASD mainly because autistic symptoms were detected in genetic syndromes involving X chromosome (fragile X syndrome, Rett syndrome, Klinefelter syndrome). Instead, few studies have analyzed the possible role of the Y chromosome in the ASD. This study explores the role of the Y chromosome in ASD through a systematic literature review about the association between ASD and XYY syndrome and a description of two new cases with this association. The literature review considered studies published in peer-reviewed journals, included in the MEDLINE and PubMed databases, that examined the association between ASD and XYY syndrome. Few studies reported the occurrence ofASD in children with XYY karyotype and the majority of them did not reported a well-defined autism diagnostic category associated with an extra Y chromosome, but several clinical conditions that are generically described as language and social impairment. Conclusion: This study underlines the underestimated role of the Y chromosome in ASD, and we postulate that all the ASD associated with the XYY karyotypemay presumably fall within mild degree of ASD as in our cases.
The assessment of the intelligence quotient (IQ) in children with autism spectrum disorder (ASD) is important to plan a detailed therapeutic-educative programme. The aim of the study was to evaluate the usefulness of the Psychoeducational Profile-third edition (PEP-3) to estimate the general cognitive development of children with ASD.
The largely used Child Behavior Check List has been published in 1991. Except for a few modifications, the present CBCL/6-18 is based on the original 113 items. The construct validity of its 8 original syndrome dimensions has been questioned (Hartman et al., J. Child Psychol. Psychiatry 1999;40:1095–116). The 6 DSM-IV oriented scales (Achenbach et al., J. Clin. Child Adol. Psychol. 2003;32:328–40), confirmed for DSM-5, utilize only 55 items, therefore a large number of items remain unused for the clinical characterization, meanwhile the length of the questionnaire could discourage parents for accurate answers. CBCL is covered by copyright, an economic burden especially for epidemiological studies. Following DSM-IV-R criteria, we built the CABI using items more representative for the symptoms of each disorder (still valid for DSM-5). Although CABI includes only 75 items, it explores an almost complete range of psychopathological disorders, including those not explored by CBCL. It is free for use, published in open access. Here we present the completion of the normative data and the results of CABI in various pathological conditions, compared with CBCL. Materials and methods: Normative data, reported in Cianchetti et al. (Clin. Pract. Epidemiol. Mental Health 2013;9:51–61) for children 8–10 y.o., were now extended including a school population 11–18 y.o. Moreover, in a polycentric study, both CABI and CBCL were administered to the parents/caregivers of 8–18 y.o. subjects affected with various psychiatric disorders. Data related to the different pathological conditions as resulted from CABI and CBCL were compared with the final diagnoses. For the comparison, the DSMoriented scales of CBCL were used. Results: Concerning normative data in subjects 11–18 y.o., the more marked difference compared to 8–10 y.o. is the higher presence of externalizing symptoms in males. Concerning pathology, a significant degree of agreement of T values [70 in both CABI and CBCL with the final diagnosis has been found in all the psychopathological domains explored by the interviews, and in CABI also in those not explored by CBCL, like eating disorders. A disagreement between clinical diagnosis and the results of both CABI and CBCL has been found in about 5–20 % of cases in relation to the different disorders, suggesting a wrong evaluation by some parents-caregivers of the condition of the child-adolescent. Conclusions: The CABI results a valid alternative to CBCL, carrying the same diagnostic capabilities. It has the advantage of a minor number of items, which facilitates the collaboration of parents/caregivers especially in case of epidemiological studies. Moreover, it is free.
Our aim was to describe the clinical and electrical features and the long-term evolution of childhood occipital epilepsy of Gastaut (COE-G) in a cohort of patients and to compare long-term prognosis between patients with and without other epileptic syndromes.
BACKGROUND: The prevalence of chronic pain is about 30% in children and adolescents which suffer from severe emotional distress. The aim of this observational study is to investigate cognitive, emotional and behavioral consequences of benign chronic pain in children and adolescents suffering of reumathologic diseases. MATERIALS AND METHODS: A total of 49 participants, chronic pain participants (CPPs) and controls (CGPs), affected by rheumatic diseases, were enrolled. Assessment included collection of sociodemographic data, pain characteristics, and administration of Visual Analog Scale (VAS), Depression Inventory for Children and Adolescents (CDI), Conners' Parent Rating Scales-Revised (CPRS-R), Child Behavior Checklist (CBCL), and Screen for Child Anxiety-Related Disorders (SCARED). For the statistical analysis, Student's t-test for independent samples and Pearson's correlation were used. The significance value was set at p less than .05. RESULTS: A significant difference of mean scores of CBCL items and of CPRS items between the two groups was found. In CPPs, a significant correlation between VAS and mean scores of several CBCL items and between VAS and mean scores of several CPRS items was found. CONCLUSION: Chronic pain is a real syndrome in which an interdisciplinary treatment should be applied, considering the psychopathological risk, especially in developmental age.
Background: Diagnosis and treatment of mood disorders in youth are still problematic because in this age the clinical presentation is atypical, and the diagnostic tools and the therapies are the same as that used for the adults. Mood disorders are categorically divided into unipolar disorders (major depressive disorder and dysthymic disorder) and bipolar disorder in Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition, Text Revision), but mood symptoms are also comprised in the diagnostic criteria of the adjustment disorder (AD), which occur in many different psychiatric disorders, and may also be found in some physical conditions. The differential diagnosis is not much addressed in the midst of clinical investigation and so remains the major problem in the clinical practice. Aims: The associations between some variables and the depressive disorder and AD were analyzed to make considerations about differential diagnosis. Patients and methods: We reported a retrospective study of 60 patients affected by depressive disorder and AD. The analysis has evaluated the association between some variables and the single diagnostic categories. We have considered 10 variables, of which 6 are specific to the disorders, and 4 have been considered related problems. Results: The statistical analysis showed significant results for the associations of 3 variables (prevalent symptoms, treatment, and family history) with the single diagnostic categories. Conclusion: The discriminate analysis resulted in statistically significant differences between patients with depressive disorders and those with AD on 3 variables, of which 2 are specific to the disorders, and 1 is included in the related problems. The other variables were weakly associated with the single diagnostic categories without any statistically significant differences. The 3 variables that were associated with the single diagnostic categories support the distinct construct validity of the 2 diagnostic categories, but, to date, it is difficult to establish if these variables can be considered diagnostic predictors. On the other hand, the other variables did not support the distinct construct validity of the 2 diagnostic categories, which suggest an overlapping and dimensional concept. The spectrum approach could unify categorical classification that is essential with a dimensional view. Combination of dimensional and categorical principles for classifying mood disorders may help to reduce the problems of underdiagnosis and undertreatment. Keywords: depressive
In DSM-5 Depressive Disorders have been separated from the Bipolar and Related Disorders. New diagnostic categories have been identified (Disruptive Mood Dysregulation Disorder, Premenstrual Dysphoric Disorder, Persistent Depressive Disorder) and others revised (Major Depressive Disorder). These modifications aim at improving the diagnostic definition of symptoms, controversial clinical features and their therapeutic indications. Critical points and problematics have already been raised, generating new developments.
Background: Several studies have shown a genetic role in the pathogenesis of many childhood psychiatric disorders. The most common childhood psychiatric disorder is the attention deficit hyperactivity disorder (ADHD) and some reports showed the co-occurance in ADHD children and Autism Spectrum Disorders (ASD). Many investigators focused their attention on polymorphisms affecting gene regions coding for dopamine receptors. In this study we evaluate the association of three single-nucleotide polymorphisms (SNPs) with clinically significant level of autistic symptoms among children with ADHD. Methods: We enrolled 150 children who were divided into four groups: children with ADHD, children with ASD, children with co-occurance of ADHD/ASD, and control subjects. We investigated rs265975 C/T (174862195C>T) for dopamine receptor D1 gene, rs1076560 C/A (113283688C>A) and rs1079597 G/A (113296286C>T) for dopamine receptor D2 gene utilizing previous DNA extraction and amplification, restriction enzymes that recognized one of two allelic variants. Results: Our results demonstrated that homozygosis T/T for rs265975 had a lower frequency in ADHD patients compared to other groups,whereas small differences were seen in heterozygosis C/T. Both heterozygosis C/A for rs1076560 and heterozygosis G/A for rs1079597 showed higher frequency in ASD group with respect to control children and ADHD patients, whereas in ADHD/ASD group a ratio 3:1 vs unaffected people was seen. The same trend, but with slight differences, was observed in homozygosis A/A for rs1076560 and rs1079597. Conclusions: These preliminary data pointing to differences between ADHD/ASD and other groups must be confirmed and encourage us to enlarge our study populations.
BACKGROUND: 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). METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
Recently, neuroimaging studies were performed using 1H-magnetic resonance spectroscopy (1H-MRS), revealing a quantitative alteration of neurochemicals (such as neurotransmitters and metabolites) in several brain regions of patients with autism spectrum disorder (ASD). The involvement of the frontal lobe in the neurobiology of ASD has long been documented in the literature. Therefore, the aim of this study was to analyze the alterations of N-acetylaspartate/creatine (NAA/Cr) and choline/Cr (Cho/Cr) ratios in the frontal lobe subcortical white matter (WM) in ASD patients, in order to reveal any alteration of metabolites that might be the expression of specific clinical features of the disorder.
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.
Introduction: To highlight defects or abnormalities in the control of the emotions is relevant for an early individuation of subjects at risk of psychopathology and for a psychotherapeutic intervention in overt disorders. Several instruments have been built for the evaluation of the control of the emotions in children and adolescents, all consisting of items in which the subject auto-evaluate his/her capability without a confrontation with a specific situation. The judgment is therefore extremely subjective, linked to the insight capability, often lacking in problematic subjects. Therefore a new instrument has been organized, the ICE (Intelligence and Control of Emotions), in which the child should choose among 4 answers in front of a more concrete, adverse or frustrating or unpleasant, situation. The main types of responses are classifiable as: aggressive, anxious-depressive and adaptive. Here we present the normative data for the ICE and the results in different pathological conditions. Materials and methods: For the normative data the ICE was administered to 502 school children and adolescents aged 8 to 18 years. The pathological sample consists of 102 children affected with externalizing and 151 with internalizing disorders, aged 8–18 years. Results: In the school population, a clear differentiation has been found between males and females in relation to the percentages of externalizing and internalizing responses. In males, a significant prevalence of externalizing responses has been found in every age band, and surprisingly even in the lowest, 8–10 y.o. Females show a prevalence of internalizing answers in each age band, with increasing values after the 10 years, when the difference compared to males becomes significant. Children and adolescents with externalizing and internalizing disorders gave a significantly lower percentage of adaptive responses. Their prevalent type of responses was concordant with their emotional disorder. Subjects with conduct disorders (CD) and some with oppositional defiant disorders (ODD) showed an aggressive type of thinking. Instead, some subjects with externalizing disorder did not show an increase of aggressive response, but of adaptive or even anxious-depressive ones, suggesting an inability of emotional control in front of real situations, despite the knowledge of the correct way to behave. Conclusions: The ICE test allows a better characterization of the emotional discontrol and of the abnormal modalities of thinking of certain subjects, especially those with ODD and CD, which can be useful for their treatment.
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.
Prader-Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader-Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader-Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic-clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader-Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.
BACKGROUND: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra- and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located. CASE PRESENTATION: We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes. CONCLUSION: Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.
In the field of psycho forensics, any sexual behavior that occurs without consent, without, equality, or as a result of coercion is considered to be abusive (AACAP, 1999; Shaw, 2002). In order for sexual behavior to be considered consensual, certain criteria are necessary: comprehension of the nature of the proposal; an understanding of societal standards regarding sexuality; awareness of the potential consequences and alternatives; the presumption that agreement or disagreement will be respected in the same manner; the decision to engage is a voluntary one; and that those involved are mentally competent (AACAP, 1999). Equal relationship refers to situations in which the two people involved possess equal power within the relationship, and neither of the two is controlled or coerced by the other. Coercion refers to situations where one party abuses authority, offers bribes, makes threats, or uses intimidation tactics in order to win the cooperation or obedience of the other. Sexual conduct during adolescence must not be considered deviant if it involves non-coercive interaction between two peers. It is not always easy to demonstrate coercion, though expert testimony evaluations often focus on this critical aspect. At times it is also challenging to determine what age appropriate sexual behavior is, and if the two people involved are, in fact, developmental and/or chronological peers. Studies on the topic hypothesize the inability of the adolescent to recognize the other as different from him or herself, and the difficulties associated with entering into a sexual relationship with another person, where dysfunctional coping strategies are often employed. One pilot study from 2002 revealed that the parents of adolescent sexual offenders most often employ an overprotective-affectionless parenting style (Craissati J, McClurg G, Browne K). “Affectionless control” parenting style is a risk factor for the development of deviant behavior. Comorbidity rates in adolescent sexual offenders are high and involve behavioral disorders, personality disorders, and emotional-affective disorders. One recent study revealed that about two thirds of sexual offenders meet the criteria for personality disorder. Impulsivity is one of the characteristics typical of people who exhibit aberrant and violent behavior (Baltieri D.A., Andrade A.G., 2008). The aim of this study is to evaluate the relationship between personality, parental care, and coping style in adolescent sex offenders. Instruments: Clinical interviews; psychodiagnostic testing (MMPI, Minnesota for Adolescents, A/2; PBI-Parental Bonding Instrument; CISS-Coping Inventory for Stressful Situations; Questionnaire I-R, frustration-aggression by Caprara et al.; and healthcare, psychological, and judicial documentation. The sample studied thus far is comprised of 23 unmarried male adolescents between the ages of 15 and 20 years at the time of the interview. The average age was 17 years ± 1.6 (standard deviation), and almost all subjects were Italian (1 Albanian), and Catholic (1 atheist, and 1 agnostic). All were investigated for perpetrating sexual violence on other minors. The sample was taken from Judicial Juvenile Social Services, which intervenes following the commission of a crime by a minor. Preliminary results have revealed no particular pathologies on the part of the adolescent sexual offenders who were examined by the authors. The type of parenting style they received appears to have been intrusive-overprotective, which did not allow the adolescent to face typical life challenges, thus impeding his ability to develop coping skills. This type of parenting style includes intrusiveness, enmeshment, encouragement of dependence, and cutting the minor off from the outside world.
Background: Learning Disorders (LD) are complex diseases that affect about 2-10% of the school-age population. We performed neuropsychological and psychopathological evaluation, in order to investigate comorbidity in children with LD. Methods: Our sample consisted of 448 patients from 7 to 16 years of age with a diagnosis of LD, divided in two subgroups: Specific Learning Disorders (SLD), including reading, writing, mathematics disorders, and Learning Disorders Not Otherwise Specified (LD NOS). Results: Comorbidity with neuropsychopathologies was found in 62.2% of the total sample. In the LSD subgroup, ADHD was present in 33%, Anxiety Disorder in 28.8%, Developmental Coordination Disorder in 17.8%, Language Disorder in 11% and Mood Disorder in 9.4% of patients. In LD NOS subgroup, Language Disorder was present in 28.6%, Developmental Coordination Disorder in 27.5%, ADHD in 25.4%, Anxiety Disorder in 16.4%, Mood Disorder in 2.1% of patients. A statistically significant presence was respectively found for Language and Developmental Coordination Disorder comorbidity in LD NOS and for ADHD, mood and anxiety disorder comorbidity in SLD subgroup. Conclusions: The different findings emerging in this study suggested to promote further investigations to better define the difference between SLD and LD NOS, in order to improve specific interventions to reduce the long range consequences.
Abstract The Autism Genome Project (AGP) Consortium recently reported genome-wide significant association between autism and an intronic single nucleotide polymorphism marker, rs4141463, within the MACROD2 gene. In the present study we attempted to replicate this finding using an independent case-control design of 1,170 cases with autism spectrum disorder (ASD) (874 of which fulfilled narrow criteria for Autism (A)) from five centers within Europe (UK, Germany, the Netherlands, Italy, and Iceland), and 35,307 controls. The combined sample size gave us a non-centrality parameter (NCP) of 11.9, with 93% power to detect allelic association of rs4141463 at an alpha of 0.05 with odds ratio of 0.84 (the best odds ratio estimate of the AGP Consortium data), and for the narrow diagnosis of autism, an NCP of 8.9 and power of 85%. Our case-control data were analyzed for association, stratified by each center, and the summary statistics were combined using the meta-analysis program, GWAMA. This resulted in an odds ratio (OR) of 1.03 (95% CI 0.944-1.133), with a P-value of 0.5 for ASD and OR of 0.99 (95% CI 0.88-1.11) with P-value = 0.85 for the Autism (A) sub-group. Therefore, this study does not provide support for the reported association between rs4141463 and autism.
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.
In recent years, studies have shown that parents of children with Neurodevelopmental Disorders (NDDs) experience more parenting stress than parents of typically developing children, but the relation between the type of disorders and parenting stress is far from clear. The purpose of this study was to compare the parenting stress experienced by parents of 239 children with Specific Learning Disorders (SpLD), Language Disorders (LD), Autism Spectrum Disorder (ASD), Attention Deficit Hyperactivity Disorder (ADHD), and typical development (TD). Parents of children with NDDs experience more parenting stress than those of children who have TD. Although, parents of children with ASD or ADHD report the most high scores of parenting stress, also the parents of children with SpLD or LD report higher parental stress compared with parent of children without NDDs. Another interesting finding was that IQ level or emotional and behavioral problems are associated with the higher levels of parenting stress. This study suggest that parent, both mothers and fathers, of children with different type of NDDs should be provided with interventions and resources to empower them with the knowledge and skills to reduce their stress and to enhance their quality of life.
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.
Autism spectrum disorders (ASD) are neurodevelopmental disorders without a definitive etiology in most cases. Environmental factors, such as viral infections, have been linked with anomalies in brain growth, neuronal development, and functional connectivity. Congenital cytomegalovirus (CMV) infection has been associated with the onset of ASD in several case reports. The aim of this study was to evaluate the prevalence of congenital CMV infection in children with ASD and in healthy controls.
To assess prognostic factors for a second clinical attack and a first disability worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of Multiple Sclerosis (MS) patients.
The aim of this prospective observational study was to investigate the variations of serum prolactin hormone (PRL) in a sample of 34 drug-naive patients (mean age 13 years) who started risperidone therapy assuming that several factors may favor the increase in serum PRL. Serum PRL and hyperprolactinemia clinical signs were examined at baseline (T0) and after almost 3 months of treatment (T1). We considered sex, pubertal status, risperidone dosage, psychiatric diagnosis, and any personal/family history of autoimmune diseases. The mean serum PRL value increased between T0 and T1 (P=0.004). The mean serum PRL was higher in females in the pubertal/postpubertal stage and for risperidone dosage up 1 mg/day. Hyperprolactinemia was found in 20% of patients at T0 and in 38% of patients at T1 (P=0.03). The mean serum PRL increase was greater in early-onset schizophrenia spectrum psychosis patients compared with no-early-onset schizophrenia spectrum psychosis patients (P=0.04). The increase in PRL was higher in patients with a personal and a family history of autoimmune diseases. This study suggests that the increase in serum PRL in patients treated with risperidone may be linked not only to the drug and its dosage but also to several risk factors such as sex, pubertal stage, psychiatric disease, and autoimmune disorders.
BACKGROUND: Recurrent headache is common in childhood, but there is not a great amount of data on the associations between headaches and psychopathology in children. OBJECTIVE: The aim of this study is to examine the relationships between primary headaches and psychopathology in children, using both the categorical and dimensional assessment. METHODS: The sample consisted of 70 patients with primary headache compared to a matched sample of 50 healthy children. Psychiatric comorbidity was defined according to the diagnostic criteria of the Diagnostic and Statistical Manual of Disorders. Child psychopathology outcomes were assessed using child- and parent-reported standardized instruments. RESULTS: Internalizing and externalizing problems were significantly represented among children with headaches compared to the control group, respectively 63% and 27%, without significant differences between migraine and tension-type headache children. Moreover, a total of 26% of the children with a headache reported psychiatric comorbidity such as anxiety and mood disorders. CONCLUSION: The dimensional approach improves accuracy in the recognition of emotional and behavioral problems compared to the categorical approach; however, the use of both of these approaches could be useful for clinical practice, treatment and research.
The migration process is 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 Italy children. The research involved migrant (first- and second- generation) and native schoolchildren attending kindergarten, primary and secondary school. A questionnaire was administrated to parents to collect information about the socio-demographic characteristics. All teachers filled in the Teacher’s Report Form (TRF) for migrant and native children. The findings show that teachers detect the academic and adaptive problems more easily in migrant schoolchildren, but they probably are less aware of their psychological problems. The observations made in this study provide a starting point to understand the psychological status and the main problems among migrant children.
PURPOSE: The assessment of the quality of life (QoL) is relevant for a comprehensive treatment of patients with epilepsy. In children and adolescents, an impact of epilepsy on the QoL of the entire family is expected. METHODS: We asked 293 parents of children and adolescents with epilepsy, included in an observational study on treatment satisfaction, to evaluate the impact of the disease on several aspects of the QoL of the whole family using a specifically organized questionnaire (IEQoL). RESULTS: The degree of parents' concerns about epilepsy and the severity of the disease correlated with a deterioration of QoL in both the children and the family. This involved all aspects of QoL (conflicts within the family, job, leisure activities, peer relationship, economy) although to a different degree. Parents frequently admitted increased apprehensiveness, even when not justified by the low severity of the disease. There was general agreement between parents and their adolescent children, although in a few cases adolescents overrated their school and daily performance in respect to the parents, suggesting a tendency to overlook their problems. CONCLUSION: Epilepsy impairs all aspects of QoL, although at different degree, both in children/adolescents and in their families. Parental apprehensiveness appears to have a role on this, and it may not reflect the severity of the disease.
The aim of this prospective observational study was to verify the tolerability and safety profile of risperidone in a sample of antipsychotic-naive children/adolescent patients having a different psychiatric diagnosis. Twenty-two (mean age of 12±3.2) antipsychotic-naive patients who started therapy with risperidone were recruited. The assessment involved anthropometric data (weight, height, BMI, BMI z-score and BMI percentile), cardiovascular parameters (blood pressure and QTc interval) and blood tests (levels of glucose, triglycerides, total cholesterol, glutamic oxaloacetic and pyruvic transaminases, γ-glutamyl transferase, prolactin, free triiodothyronine, free thyroxine, thyroid-stimulating hormone, thyroglobulin, antithyroid peroxidase and antithyroglobulin). After an average follow-up of 6 months of risperidone therapy, a statistically significant increase in weight and body composition was observed. Furthermore, an increase in serum levels of prolactin was observed in 50% of patients. No other significant changes in metabolic and cardiovascular parameters were found. Although an increase in these parameters was detected, it remained in the normal range. This study suggests the use of specific protocols for monitoring children/adolescents treated with second-generation antipsychotics to manage the metabolic long-term complications and progression to more severe disease states
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