Publications by authors named "Umberto Balottin"

122 Publications

Prognostic Accuracy of DSM-5 Attenuated Psychosis Symptoms in Adolescents: Prospective Real-World 5-Year Cohort Study.

Schizophr Bull 2021 May 3. Epub 2021 May 3.

Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

There is limited research in adolescents at risk for psychosis. The new Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition attenuated psychosis syndrome (DSM-5 APS) criteria have not been validated in this group. We conducted a RECORD-compliant, real-world, prospective, 5-year cohort study addressing clinical profile, transition to psychosis, and prognostic accuracy of DSM-5 APS in help-seeking inpatient/outpatient adolescents accessing Children and Adolescent Neuropsychiatric services at IRCCS Mondino Foundation (Pavia, Lombardy, Italy) between 2012 and 2019. About 243 adolescents (31 early-onset psychosis [EOP]; 110 meeting DSM-5 APS criteria, DSM-5 APS; 102 not meeting psychotic or DSM-5 APS criteria, non-APS) were included. At baseline, DSM-5 APS adolescents (aged 15.4 ± 1.6) had on average 2.3 comorbid disorders (higher than EOP/non-APS, P < .001). DSM-5 APS adolescents had an intermediate psychopathological profile between non-APS/EOP (P < .001) and worsen Clinical Global Impression-Severity than non-APS (P < .001). DSM-5 APS functioning was intermediate between non-APS and EOP. 39.1% of DSM-5 APS were treated with psychotropic drugs (average = 64 days); 53.6% received psychotherapy. Follow-up of DSM-5 APS and non-APS groups lasted 33 and 26 months, respectively (median). The cumulative risk of transition at 1-5 years was 13%, 17%, 24.2%, 26.8%, and 26.8% in the DSM-5 APS group, 0%, 0%, 3.2%, 3.2%, and 3.2% in the non-APS group. The 5-year prognostic accuracy of the DSM-5 APS in adolescent was adequate (area under the curve = 0.77; Harrell's C = 0.736, 95%CI 0.697-0.775), with high sensitivity (91.3%) and suboptimal specificity (63.2%). The DSM-5 APS diagnosis can be used to detect help-seeking adolescents at risk of psychosis and predict their long-term outcomes. Future research should consolidate these findings.
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http://dx.doi.org/10.1093/schbul/sbab041DOI Listing
May 2021

Universal and selective interventions to promote good mental health in young people: Systematic review and meta-analysis.

Eur Neuropsychopharmacol 2020 12 6;41:28-39. Epub 2020 Nov 6.

Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

Promotion of good mental health in young people is important. Our aim was to evaluate the consistency and magnitude of the efficacy of universal/selective interventions to promote good mental health. A systematic PRISMA/RIGHT-compliant meta-analysis (PROSPERO: CRD42018088708) search of Web of Science until 04/31/2019 identified original studies comparing the efficacy of universal/selective interventions for good mental health vs a control group, in samples with a mean age <35 years. Meta-analytical random-effects model, heterogeneity statistics, assessment of publication bias, study quality and sensitivity analyses investigated the efficacy (Hedges' g=effect size, ES) of universal/selective interventions to promote 14 good mental health outcomes defined a-priori. 276 studies were included (total participants: 159,508, 79,142 interventions and 80,366 controls), mean age=15.0 (SD=7.4); female=56.0%. There was a significant overall improvement in 10/13 good mental health outcome categories that could be meta-analysed: compared to controls, interventions significantly improved (in descending order of magnitude) mental health literacy (ES=0.685, p<0.001), emotions (ES=0.541, p<0.001), self-perceptions and values (ES=0.49, p<0.001), quality of life (ES=0.457, p=0.001), cognitive skills (ES=0.428, p<0.001), social skills (ES=0.371, p<0.001), physical health (ES=0.285, p<0.001), sexual health (ES=0.257, p=0.017), academic/occupational performance (ES=0.211, p<0.001) and attitude towards mental disorders (ES=0.177, p=0.006). Psychoeducation was the most effective intervention for promoting mental health literacy (ES=0.774, p<0.001) and cognitive skills (ES=1.153, p=0.03). Physical therapy, exercise and relaxation were more effective than psychoeducation and psychotherapy for promoting physical health (ES=0.498, p<0.001). In conclusion, several universal/selective interventions can be effective to promote good mental health in young people. Future research should consolidate and extend these findings.
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http://dx.doi.org/10.1016/j.euroneuro.2020.10.007DOI Listing
December 2020

Clinical features of adolescents diagnosed with eating disorders and at risk for psychosis.

Eur Psychiatry 2020 08 24;63(1):e80. Epub 2020 Aug 24.

Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.

Background: The presence of subthreshold psychotic symptoms in adolescents with eating disorders is poorly described. This study provides a detailed characterization of adolescents affected by eating disorders in the absence or presence of subthreshold psychotic symptoms, taking into account a wide set of sociodemographic, psychological, and clinical variables.

Methods: Ninety-four adolescents diagnosed with eating disorders were interviewed, focusing on clinical anamnesis and sociodemographic data collection. The Comprehensive Assessment of At-Risk Mental States (CAARMS) was used to assess the presence (HR+) or absence (HR-) of subthreshold psychosis. The clinicians completed a questionnaire on eating disorders severity, whereas patients provided self-report measures of global social functioning and psychological symptoms associated with eating disorders.

Results: Attenuated psychotic symptoms were highly frequent (84% of subjects). HR+ patients experienced more frequently purging behaviors and dysmorphophobia and received a greater amount of antipsychotic drugs. Compared to HR- counterparts, HR+ patients reported higher eating disorders severity and psychological symptoms (i.e., ineffectiveness, interpersonal and affective problems) associated with eating disorders. Finally, a significant correlation between global social functioning and eating disorders severity emerged only for HR- subjects.

Conclusions: These descriptive data are warranted to identify a potential psychotic core in eating disorders, mainly concerning body image and weight as well as specific psychological features. The availability of reliable and valid markers of risk can further increase our capacity to detect the early emergence of psychosis in adolescents with eating disorders, whose outcome might be worsened by the presence of psychotic symptoms.
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http://dx.doi.org/10.1192/j.eurpsy.2020.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503175PMC
August 2020

Focus on family functioning in anorexia nervosa: new perspectives using the Lausanne Trilogue Play.

Psychiatry Res 2020 06 15;288:112968. Epub 2020 Apr 15.

Child Neuropsychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy; Child Neuropsychiatry Unit, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.

31 families of female adolescents affected by anorexia nervosa (AN) and 20 of girls with emotional and behavioral disorders participated in a semi-standardized videotaped game: the Lausanne Trilogue Play (LTPc). We aimed to clarify if there is a typical AN family profile and if the LTPc procedure could predict the risk of developing AN. We confirmed that AN families exhibit dysfunctional alliances. Particularly because of the difficulty of the three members to be available to the interaction at least with their body (participation) and to comply with the role expected at each stage of the game (organization). Moreover, these families show a significant worse functioning, especially regards to the mother-daughter phase of the game, in focal attention and affective contact functional levels, while in triadic and couple phases they present lower scores than comparison group in all functional levels. Furthermore, we found that LTPc may predict the possibility of belonging to a family with a daughter with AN rather than one whose daughter has a different disorder. Therefore, LTPc would allow clinicians foresee the risk of developing AN and tailoring the most suitable therapeutic intervention and finally see its effectiveness using LTPc for later follow-up video feedback sessions.
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http://dx.doi.org/10.1016/j.psychres.2020.112968DOI Listing
June 2020

How parental levels of empathy and alexithymia influence their perception of child's behavior.

Minerva Pediatr 2020 Apr 9. Epub 2020 Apr 9.

Child Neuropsychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.

Background: Literature states that parents of individuals affected by Autism Spectrum Disorder (ASD) can present social and cognitive deficits, restricted behavior patterns and psychiatric difficulties, without meeting standard diagnostic criteria for ASD ("Broader Autism Phenotype"). We explored the relationship between parenting of children affected by ASD and levels of empathy and lack of emotion understanding (alexithymia).

Methods: We enlisted 58 families in which a child was affected by ASD. Parents' empathy and alexithymia were respectively assessed by means of Empathy Quotient (EQ) and Toronto Alexithymia Scale (TAS-20). Additionally, we included the assessment of the perception of children's behavior through the Child Behavior Checklist (CBCL).

Results: Our findings suggest that most parents have normal empathy and do not show significant alexithymia. We found lower EQ and higher TAS-20 scores being more frequent in fathers. Moreover, each parent's empathy degree negatively relates to his/her alexithymia and vice versa, showing that these two features are inversely correlated. Our study unveiled a strong correlation between maternal empathy and alexithymia and child's externalizing problems, as reported by mothers.

Conclusions: Our data reveal differences in mothers and fathers' empathy and alexithymia profiles and confirm the importance of considering both parents' points of view either in the diagnostic and the therapeutic interventions. Parental empathy and alexithymia levels not only play a fundamental role in the evaluation of child's difficulties but can also influence the development of a good relationship with the child for what concerns affective resonance.
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http://dx.doi.org/10.23736/S0026-4946.20.05609-1DOI Listing
April 2020

Predictive validity for the clinical diagnosis of a new parent questionnaire, the CABI, compared with CBCL.

Clin Child Psychol Psychiatry 2020 Apr 2;25(2):507-519. Epub 2020 Jan 2.

Child Neuropsychiatry Unit, University of Bari Aldo Moro, Italy.

Background: The questionnaires completed by the parents give a first general information on the behavioral problems of the child-adolescent, as a useful orientation to the clinical evaluation. The Child and Adolescent Behavior Inventory (CABI) is a 75-item parent questionnaire, which explores a large number of problem areas. The study of its predictive validity for the clinical diagnosis, in comparison with the Diagnostic and Statistical Manual of Mental Disorders ()-oriented scales of the Child Behavior Checklist (CBCL), can assess whether its use may be advantageous.

Material And Methods: Parents/caregivers of 462 children and adolescents responded to both CABI and CBCL as a preliminary routine investigation. The results were compared with those of diagnoses obtained after the completion of the usual clinical procedure.

Results: Accuracy values (probability of correct classification) resulted high for both instruments and significantly better for CABI anxiety and attention-deficit hyperactivity disorder (ADHD) scales, and for CBCL oppositional defiant disorder (ODD) and conduct disorder (CD) scales; no significant difference was found for depression scales. All the areas under the curve (AUC) of the receiver operating characteristic analysis reached excellent values, suggesting a very good predictive ability of the five scales of the two instruments. The comparison of AUC showed the CABI's anxiety and ADHD scales to give significantly higher values than those of CBCL, indicating that these two scales have a better predictive ability.

Conclusion: The study indicates a very good comparative (vs CBCL) and predictive validity of the CABI, suggesting an advantage in the use of this shorter questionnaire, available for free use both for clinical practice and supposedly for screening and epidemiological evaluations.
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http://dx.doi.org/10.1177/1359104519895056DOI Listing
April 2020

Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders.

BMC Anesthesiol 2019 12 18;19(1):235. Epub 2019 Dec 18.

Anesthesia and Intensive Care, Rianimazione 1 Fondazione IRCCS Policlinico S. Matteo, 27100, Pavia, Italy.

Background: Children require anesthesia for MRI to maintain immobility and reduce discomfort; clear indications about the best anesthesiologic management are lacking and each center developed its own protocol. Moreover, children with neuropsychiatric disorders more likely require sedation and are described in literature as more prone to general and respiratory complications. Aim of this study was to analyze the applicability of a sevoflurane-based approach, to describe general and respiratory complications and to identify risk factors in a pediatric neuropsychiatric population.

Methods: Retrospective cohort study, university Hospital (January 2007-December 2016). All the 1469 anesthesiologic records of children addressed from Neuropsychiatric Unit to undergo MRI under general anesthesia were analyzed; 12 patients equal or older than 18-year-old were excluded. We identified post-hoc nine macro-categories: static encephalopathies, metabolic/evolutive encephalopathies, epileptic encephalopathies, neuromuscular diseases, autistic spectrum disorders, migraine, psychiatric disorders, intellectual disabilities, others. A logistic regression model for events with low frequency (Firth's penalized likelihood approach) was carried out to identify the mutually adjusted effect among endpoints (complications) and the independent variables chosen on the basis of statistical significance (univariate analysis, p ≤ 0.05) and clinical judgment.

Results: Of 1457 anesthesiologic records (age 4.0 (IQR 2.0 to 7.0) year-old, males 891 (61.2%), weight 17.0 (IQR 12.0 to 24.9) kg), 18 were cancelled for high anesthesiologic risk, 50 were cooperative, 1389 were anesthetized. A sevoflurane-based anesthesia was feasible in 92.3%; these patients required significantly less mechanical ventilation (8.6 vs. 16.2%; p = 0.012). Complications' rate was low (6.2%; 3.1% respiratory). The risk for general complications increases with ASA score > 1 (OR 2.22, 95 CI% 1.30 to 3.77, p = 0.003), male sex (OR 1.73, 95% CI 1.07 to 2.81, p = 0.025), multi-drug anesthesia (OR 2.98, 95 CI% 1.26 to 7.06, p = 0.013). For respiratory complications, it increases with ASA score > 1 (OR 2.34, 95 CI% 1.19 to 4.73, p = 0.017), autumn-winter (OR 2.01, 95 CI% 1.06 to 3.78, p = 0.030), neuromuscular disorders (OR 3.18, 95 CI% 1.20 to 8.41, p = 0.020). We had no major complications compromising patients' outcome or requiring admission to ICU.

Conclusions: Sevoflurane anesthesia is feasible and safe for children affected by neuropsychiatric disorders undergoing MRI. Specific risk factors for general and respiratory complications should be considered.
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http://dx.doi.org/10.1186/s12871-019-0897-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921558PMC
December 2019

Predictors of Outcomes in Adolescents With Clinical High Risk for Psychosis, Other Psychiatric Symptoms, and Psychosis: A Longitudinal Protocol Study.

Front Psychiatry 2019 3;10:787. Epub 2019 Dec 3.

Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

In children and adolescents, schizophrenia is one of the ten main causes of disability-adjusted life years. The identification of people at Clinical High Risk of developing Psychosis (CHR-P) is one of the most promising strategies to improve outcomes. However, in children and adolescents research on the CHR-P state is still in its infancy and the clinical validity of at-risk criteria appears understudied in this population. Furthermore, only few studies have evaluated the psychopathological, neuropsychological, neuroimaging characteristics and, especially, long-term outcomes of adolescents at high risk. We present here the protocol of an innovative longitudinal cohort study of adolescents aged 12-17. The sample will consist of patients admitted to a third level neuropsychiatric unit, belonging to one of the following three subgroups: 1) adolescents with established Diagnostic and Statistical Manual of Mental Disorder-Fifth Edition psychosis, 2) adolescents with CHR-P, and 3) adolescents with psychiatric symptoms other than established psychosis or CHR-P. The primary aim of our study is to evaluate the 2-year prognosis across the three groups. We will measure transition to psychosis (or the stability of the diagnosis of psychosis in the psychotic group), the risk of development of other psychiatric disorders, as well as socio-occupational functioning at outcome. The secondary aim will be to explore the effect of specific predictors (clinical, neuropsychological and neuroimaging factors) on the prognosis. At baseline, 1-year and 2-year follow-up participants will be assessed using standardized semi-structured interviews and instruments. Psychopathological and functioning variables, as well as neuropsychological domains will be compared across the three subgroups. Moreover, at baseline and 2-year follow-up all recruited patients will undergo a 3-Tesla magnetic resonance imaging examination and diffusion tensor imaging parameters will be analyzed. We believe that this study will advance our ability to predict outcomes in underage CHR-P samples. In particular, our data will enable a better understanding of the clinical significance of CHR-P in adolescents, and shed new light on prognostic factors that can be used to refine the prediction of clinical outcomes and the implementation of preventive interventions.
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http://dx.doi.org/10.3389/fpsyt.2019.00787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6902080PMC
December 2019

MRI Findings in Children with Headache Seen in a Third-Level Centre.

Psychiatry Investig 2019 Oct 3;16(10):789-790. Epub 2019 Sep 3.

Child Neuropsychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.

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http://dx.doi.org/10.30773/pi.2019.07.25.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801317PMC
October 2019

A Pilot Study on Circadian Activity Rhythm in Pediatric Attention-Deficit Hyperactivity Disorder.

Clocks Sleep 2019 Sep 12;1(3):385-393. Epub 2019 Aug 12.

Department of Psychology, University of Bologna, Viale Berti Pichat 5, 40127 Bologna, Italy.

A recent study has applied a novel statistical framework (functional linear modeling: FLM) to the study of circadian activity rhythm (CAR) in adult attention-deficit hyperactivity disorder (ADHD), pointing out the absence of the physiological post-lunch dip. The aim of the present study was to apply FLM to explore the features of CAR in pediatric ADHD. To this end, a secondary analysis of previously collected data was carried out. Twenty-four ADHD children (four females, mean age 8.67 ± 1.74) and 107 controls (C, 60 females, mean age 10.25 ± 0.48) were examined. The actigraph model Actiwatch AW64 was used to objectively monitor sleep/wake behavior and CAR. In the original study each participant wore the actigraph on the non-dominant wrist for one week. FLM was applied to examine the differences between groups in CAR. Compared with C, the CAR of ADHD children was distinguished by a higher motor activity during the whole of the daytime and within a reduced time window during the nighttime.
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http://dx.doi.org/10.3390/clockssleep1030031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445851PMC
September 2019

Social stigma and self-perception in adolescents with tourette syndrome.

Adolesc Health Med Ther 2019 11;10:75-82. Epub 2019 Jun 11.

School of Life and Health Sciences, Aston Brain Centre, Aston University, Birmingham, UK.

Tourette syndrome (TS) is a complex neurodevelopmental disorder characterized by multiple motor and vocal tics, which commonly presents with multiple behavioral problems, including co-morbid attention-deficit and hyperactivity disorder and obsessive-compulsive disorder. Both tics and co-morbid conditions have been shown to potentially affect patients' health-related quality of life. While TS typically presents in childhood, its manifestations peak in severity during adolescence, a critical period in which affected individuals are exposed to potential stigma from peers. Physical and behavioral manifestations can also contribute to stigma, which subsequently leads to poorer health outcomes, discrimination, and a reduced willingness to seek help. The available evidence suggests that young patients with TS can experience reduced social acceptance from peers and difficulties establishing relationships. There is also evidence that some health care professionals share the unhelpful belief that young patients with TS should be disciplined in order to correct their disruptive behavior, based on the erroneous assumption that tics can be consciously controlled. Studies focussed on self-perception in patients with TS have yielded inconsistent results, with some studies showing problems in the domains of self-concept and self-esteem. Feelings of isolation, loneliness, and experiences of bullying have been reported more consistently. Interventions are required to reduce misconceptions about the condition and thus reduce stigma through targeted education and behavioral interventions. A multi-faceted approach that focuses on educating children, adults, and educators about TS would be beneficial to help alleviate stigma. This can be combined with self-advocacy and tailored psychological therapies for young patients with TS. The present paper reviews the current literature on stigma and self-perception in adolescents with TS in order to inform clinical decisions about management strategies and possible interventions to improve health-related quality of life.
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http://dx.doi.org/10.2147/AHMT.S175765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6573773PMC
June 2019

HLA-G allelic distribution in Sardinian children with Autism spectrum disorders: A replication study.

Brain Behav Immun 2019 07 11;79:314-318. Epub 2019 Feb 11.

IRCCS Fondazione Don Carlo Gnocchi, Milano, Italy; Pathophysiology and Transplantation, University of Milano, Milano, Italy.

Recent results show that in mainland Italian children with Autism spectrum disorder (ASD), HLA-G coding alleles distribution is skewed and an association between HLA-G*01:05N and ASD is present. Herein, in an independent cohort of Sardinian ASD (sASD) children and their relatives, we verify whether HLA-G allele association with ASD could be confirmed in this genetically peculiar insular population. One hundred children with a diagnosis of ASD, born in Sardinia and of Sardinian descent, 91 of their mothers, and 40 of their healthy siblings were enrolled. DNA sequencing analysis of HLA-G exon 2, 3 and 4 was used to obtain HLA-G allelic frequencies. Alleles distribution was compared with that of continental ASD children and with a control group of Caucasoid couples of multiparous women and their partners from Brazil and Denmark. Skewing of HLA-G allele distribution was replicated in sASD children; in particular, the HLA-G*01:03 allele, associated with reduced fetal tolerogenicity and development of myeloid leukemia, was more common in both ASD groups compared to controls (p = 1 × 10; OR:3.5, 95%CI: 1.8-6.8). However, given the lack of data on HLA-G*01:03 allelic distribution among Sardinian healthy subjects, we cannot exclude a population effect. These data confirm an association of HLA-G locus with ASD development, particularly with those alleles linked to a lower expression of tolerogenic HLA-G protein, thus warranting further studies on HLA-G polymorphism distribution in different ASD populations.
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http://dx.doi.org/10.1016/j.bbi.2019.02.003DOI Listing
July 2019

Risk of Developmental Coordination Disorder in Italian very preterm children at school age compared to general population controls.

Eur J Paediatr Neurol 2019 Mar 11;23(2):296-303. Epub 2019 Jan 11.

Clinical Care and Management Innovation Research Area, Bambino Gesù Children's Hospital, IRCCS, Viale Ferdinando Baldelli 41, 00146, Rome, Italy. Electronic address:

Background: Developmental Coordination Disorder (DCD) is a neurodevelopmental disorder that involves difficulties in goal-directed motor coordination, with ineffective control of fine and gross motor movements in the absence of sensory impairment or neurological condition. DCD is frequently reported in children born very preterm (VP) who survive without CP.

Aims: To measure the risk of DCD at school age in a large area-based cohort of VP children and general population controls, adjusting for gender, birth weight by gestational age and age at assessment.

Methods: VP children (N = 608) were part of a prospective cohort study in Italy. Controls (N = 370) were participants in the DCDQ-Italian validation study in the same age range. The Italian version of Developmental Coordination Disorder Questionnaire (DCDQ-Italian) was used to measure the performances in motor coordination during ordinary activities from the parental point of view. Multivariable regression analysis was used to obtain adjusted risk ratios of screening positive for DCD.

Results: VP children had scores significantly lower than peers, and about 30% of them appeared at risk of DCD using the 15th percentile cut-off of the Italian validation study. Birth-weight <10th percentile for gestational age and male gender were significant predictors. A slight trend effect was present, with extremely preterm children (<28 weeks gestation) showing the highest risk.

Conclusions: Our study confirmed the higher DCD risk in VP children, particularly when males and SGA.
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http://dx.doi.org/10.1016/j.ejpn.2019.01.002DOI Listing
March 2019

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.

BMC Med Genomics 2018 Sep 29;11(1):87. Epub 2018 Sep 29.

Department of Neuroradiology, IRCCS Mondino Foundation, via Mondino 2, 27100, Pavia, Italy.

Background: Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. To date, the spectrum of radiological features observed in patients with OTX2 mutations has never been summarized.

Case Presentation: In this report, we describe a case of large microdeletion encompassing OTX2 but not BMP4 presenting with a syndromic anophthalmia with corpus callosum hypoplasia, pituitary gland hypoplasia and vermian hypoplasia.

Conclusion: Our case report provides an illustration of the neuroradiological spectrum in a case of OTX2-related syndrome and the first radiological evidence of 14q22.2q23.1 deletion associated posterior cranial fossa anomalies.
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http://dx.doi.org/10.1186/s12920-018-0405-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162925PMC
September 2018

Cognitive Impairment in Children and Adolescents With Migraine.

Front Neurol 2018 14;9:667. Epub 2018 Aug 14.

Child Neuropsychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.

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http://dx.doi.org/10.3389/fneur.2018.00667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102948PMC
August 2018

Are family relations connected to the quality of the outcome in adolescent anorexia nervosa? An observational study with the Lausanne Trilogue Play.

Clin Psychol Psychother 2018 Nov 26;25(6):785-796. Epub 2018 Jul 26.

Child Neuropsychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.

The study aims to explore the connection between the family interactive patterns, investigated with a standardized observational tool based on a recorded play session, the Lausanne Trilogue Play, and the outcome of adolescent patients with anorexia nervosa after a 6 months treatment, based on the Morgan-Russel Outcome Assessment Schedule. Seventy-two parents and adolescent daughters with anorexia nervosa, consecutively referred to an adolescent neuropsychiatric service, participated in the study and underwent an integrated model of treatment, based on constant neuropsychiatric and dietary monitoring, weekly individual psychotherapy for the daughter, and parental counselling and support. A better adolescents' functioning in family relationships, in particular in the triadic ones, at first assessment, was associated with a better outcome. Data on family interactions may help predict the most appropriate intervention for the patient and his family.
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http://dx.doi.org/10.1002/cpp.2314DOI Listing
November 2018

Empathy and behavior in children affected by Autism Spectrum Disorders.

Minerva Pediatr 2018 Jul 2. Epub 2018 Jul 2.

Child Neuropsychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.

Background: Many studies have already shown that individuals suffering from Autism Spectrum Disorders (ASD) present low levels of empathy: in fact, reduced emotional reciprocity is considered a clinically significant indicator of autistic functioning. We decided to investigate the role of empathy in determining pathological behaviors in children affected by ASD considering parents' point of view and to evaluate the presence of differences between mothers and fathers' perception of their child's empathy and behaviors.

Methods: We compared empathy levels in a sample of 58 patients with ASD as reported by a parent-filled questionnaire with the results of a global evaluation conducted by means of play observations, clinician-rated scales, a semi-structured interview with both caregivers and parent-filled questionnaires.

Results: The majority of ASD patients have low levels of empathy according to both parents' points of view; noteworthy, mothers and fathers are highly concordant in this respect. Children's levels of empathy negatively correlate with many behavioral problems, both internalizing and externalizing. Furthermore, we found that mothers tend to perceive more internalizing problems, while fathers are more willing to notice externalizing ones.

Conclusions: Involving both caregivers in children's diagnostic assessment could deepen patient's evaluation and finally the therapeutic results. Mothers and fathers seem to be highly consistent in describing the psychological characteristics of their child, but not in respect to symptoms.
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http://dx.doi.org/10.23736/S0026-4946.18.05228-3DOI Listing
July 2018

Rorschach Evaluation of Personality and Emotional Characteristics in Adolescents With Migraine Versus Epilepsy and Controls.

Front Neurol 2018 20;9:160. Epub 2018 Mar 20.

Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

The literature examining primary headache, including migraine, in adolescents, has pointed out the key role played by a wide range of psychiatric disorders in reducing the patients' quality of life. Moreover, pioneering studies showed that preexisting personality characteristics, specific emotion regulation styles and psychological-psychiatric difficulties are likely to increase the risk of the onset, maintenance, and outcome of headache. Still personality issues in migraine have been poorly studied, in particular in children and adolescents. This study aims, therefore, to investigate the specific characteristics of personality, and in particular emotion regulation and coping strategies, in adolescent with migraine, comparing them with age-matched patients with idiopathic epilepsy and healthy adolescents. 52 adolescents (age: 11-17) were assessed using a multi-method test battery, which included a self-report questionnaire (the youth self-report), a proxy-report (child behavior checklist) along with a projective personality test, the Rorschach Test, administered and scored according to the Exner comprehensive system. The results showed specific personality characteristics in adolescents with migraine, revealing a marked difficulty in modulating and regulating affections through thoughts and reflections, resorting instead to impulsive acts and maladaptive coping strategies, thus revealing a vague and immature perception of reality. Differently from adolescents belonging to the general population, but similarly to patients with epilepsy, adolescents with migraine perceive a high situational stress, probably related to the condition of suffering from chronic disease. They have, therefore, a lower self-consideration and self-esteem along with a poorer insight regarding themselves as well as the relations with others. In line with previous findings, these preliminary results suggest the need for further research on ample samples, using also standardized projective test in order to better understand the pathogenesis of psychological difficulties in patients with migraine. As a clinical implication, the results seem to indicate that providing a psychological integrated approach can play a pivotal role in the assessment and treatment of adolescent with migraine, in order to improve the outcome and the quality of life of the young patients.
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http://dx.doi.org/10.3389/fneur.2018.00160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869322PMC
March 2018

Intellectual Profile of Adolescents with Headache: A Case-Control Study Using the WISC-IV.

Front Neurol 2018 6;9:128. Epub 2018 Mar 6.

IRCCS Mondino Foundation, Pavia, Italy.

There are few literature evidences about the intellectual profile of adolescents with headache and no study has used the fourth edition of the Wechsler Intelligence Scale for Children (WISC-IV) in patients with a diagnosis of headache according to the ICHD-III-beta. We recruited 30 patients (age 11-14 years; male:female = 1:2) seen for headache in a tertiary center in Northern Italy and 30 healthy controls matched for age and sex, recruited in a public school from the same geographic area. The diagnosis of headache was done according to the ICHD-III criteria (beta version): the case group was composed of 16 patients with migraine and 14 with tension-type headache. Cognitive functioning was assessed using the WISC-IV. Recruited patients with idiopathic headache diagnosis had on average a cognitive function within the normal range. We found no statistically significant differences in the total Intellective Quotient comparing patients with headache and controls; the Working Memory Index was, however, lower in patients with headache ( = 0.012), and in particular, we found a lower Digit Span ( < 0.001). We also found a borderline statistical difference ( = 0.051) between case and controls Verbal Comprehension Index (CVI), which was due to a lower score in the Similarities subtest ( < 0.001). Our results suggest that, although within normal limits, cognitive functioning of adolescents with headache differs from that of healthy peers regarding memory and verbal skills. The Working Memory Index is related to the subject's ability to store new information and keep them in short-term memory, to maintain focused attention and to manipulate them to find solutions. The difference in Similarities is also important because it provides a measure of the level of verbal reasoning and concept formation; it is also a measure of verbal abstract thinking skills relevant for language development, lexical knowledge, auditory comprehension, memory, and ability to discriminate between essential and non-essential characteristics. Our data, in keep with previous findings, suggest the need for further researches to better understand the pathogenesis of these difficulties and obtain ideas for an adequate rehabilitative treatment.
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http://dx.doi.org/10.3389/fneur.2018.00128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845748PMC
March 2018

Author Correction: Children's first handwriting productions show a rhythmic structure.

Sci Rep 2018 Mar 15;8(1):4874. Epub 2018 Mar 15.

Department of Psychology, Università degli Studi di Milano-Bicocca, Piazza dell'Ateneo Nuovo, 1, 20126, Milan, Italy.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
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http://dx.doi.org/10.1038/s41598-018-23228-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5854702PMC
March 2018

HLA-G coding region polymorphism is skewed in autistic spectrum disorders.

Brain Behav Immun 2018 Jan 18;67:308-313. Epub 2017 Sep 18.

Don C. Gnocchi Foundation IRCCS, Milano, Italy; Department of Pathophysiology and Transplantation, University of Milano, Milano, Italy.

Different isoforms of HLA-G protein are endowed with a differential ability to induce allogenic tolerance during pregnancy. As prenatal immune activation is suggested to play a role in the onset of autistic spectrum disorders (ASD), we evaluated HLA G*01:01-*01:06 allelic polymorphism in a cohort of Italian children affected by ASD (N=111) their mothers (N=81), and their healthy siblings (N=39). DNA sequencing analysis of HLA-G exon 2, 3 and 4 was used to obtain HLA-G allelic frequencies; alleles distribution was compared with that of two control groups of Caucasoid couples of multiparous women and their partners from Brazil and Denmark. HLA-G distribution was significantly different in ASD children compared to both control groups (Brazilian p=1×10; Danish p=1×10). Since HLA-G distribution was similar in the two control groups, their data were pooled. Results indicated that HLA-G*01:01 was significantly less frequent (p=1×10; OR:0.5, 95%CI: 0.3-0.7) whereas HLA-G*01:05N was significantly more frequent (p=2×10; OR:7.3, 95%CI: 2.4-26.6) in ASD children compared to combined controls. Finally, no clear pattern emerged when HLA-G allelic distribution was analyzed in healthy sibs. Notably, HLA-G allelic distribution found in ASD mothers was similar to that observed in the control subgroup of women with recurrent miscarriages, whilst it was significantly different compared to women without miscarriages (p=6×10 df=12). Since HLA-G*01:01 is associated with the elicitation of KIR-mediated tolerogenic responses and HLA-G*01:05N correlates with NK cells activation, results herein indicate that an immune activating milieu during pregnancy is more likely observed in association with the development of ASD, similarly to what occurs in women with recurrent miscarriages.
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http://dx.doi.org/10.1016/j.bbi.2017.09.007DOI Listing
January 2018

Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs.

Acta Myol 2017 06;36(2):41-45

Cardiomyology and Medical Genetics, Department of Experimental Medicine, Campania University "Luigi Vanvitelli", Italy.

This paper describes the psycho-social treatments received by 502 patients with MDs and their relatives, and the costs for care sustained by the families in the previous six month period. Data were collected by the MD-Care Schedule (MD-CS) and the Family Problems Questionnaire (FPQ). Psycho-educational interventions were provided to 72 patients (14.3%), and social/welfare support to 331 patients (65.9%). Social/welfare support was higher in patients with DMD or LGMD, in those showing more severe disability, and in patients who were in contact with centres located in Northern Italy. Psycho-educational interventions were received by 156 (31%) relatives, and social/welfare support by 55 (10.9%) and mainly provided by Family/Patients Associations (83.6%). Relatives with higher educational levels, who spent more daily hours in the assistance of patients with DMD, and in contact with centres in Central Italy more frequently benefited from psycho-educational interventions. In the previous year, costs for care were sustained by 314 (63.9%) relatives. Financial difficulties related to patient's condition, were higher in families of patients who needed more intensive rehabilitation and daily hours of caregiving, and in families who lived further away from the reference's centre. These results showed that psycho-social aspects of MDs care are only partially met in Italy, and that ad hoc supportive interventions for these patients and their families should be potentiated.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5530600PMC
June 2017

Children's first handwriting productions show a rhythmic structure.

Sci Rep 2017 07 17;7(1):5516. Epub 2017 Jul 17.

Department of Psychology, Università degli Studi di Milano-Bicocca, Piazza dell'Ateneo Nuovo, 1, 20126, Milan, Italy.

Although much research has been concerned with the development of kinematic aspects of handwriting, little is known about the development along with age of two principles that govern its rhythmic organization: Homothety and Isochrony. Homothety states that the ratio between the durations of the single motor events composing a motor act remains invariant and independent from the total duration of the movement. Isochrony refers to the proportional relationship between the speed of movement execution and the length of its trajectory. The current study shows that children comply with both principles since their first grade of primary school. The precocious adherence to these principles suggests that an internal representation of the rhythm of handwriting is available before the age in which handwriting is performed automatically. Overall, these findings suggest that despite being a cultural acquisition, handwriting appears to be shaped by more general constraints on the timing planning of the movements.
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http://dx.doi.org/10.1038/s41598-017-05105-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514070PMC
July 2017

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions.

Acta Myol 2017 03;36(1):19-24

Department of Psychology, Campania University "Luigi Vanvitelli", Italy.

This paper describes the pharmacological therapies and rehabilitative interventions received by 502 patients with Muscular Dystrophies, evaluated in relation to patient's socio-demographic and clinical variables, and geographical areas. Data were collected by the MD-Socio-Demographic and Clinical Schedule (MD-SC-CS) and by the Family Problems Questionnaire (FPQ). The most part of the enrolled patients were in drug treatment. The number of the medications increased in relation to patient's age, disability degree and duration of illness and was higher among patients with Duchenne Muscular Dystrophy (DMD) compared with Becker (BMD) or Limb-Girdle Muscular Dystrophies (LGMD). Steroids (deflazacort or prednisone) were the drug most frequently used, followed by cardiologic and bone metabolism drugs. In general, patients using steroids were younger and had a shorter duration of illness; patients using cardiac drugs and dietary supplements were older and had a longer duration of illness. Rehabilitative interventions were provided to about 70% (351/502) of patients, mainly DMD. Of these, physiotherapy was the more frequent treatment (96.6%) and was prevalently performed in rehabilitative centres (about 70% of patients) and at home in only 30%. Hydrokinetic-therapy was practiced by 6.8% of patients. Respiratory rehabilitation was provided to 47.0% of patients (165/351) and assisted mechanical ventilaventilation to 13.1% (46). The amount of rehabilitative interventions increased in relation to the patient's age, level of disability and duration of illness. Compared to Central and Northern Italy, in Southern Italy there was a higher attention to cardiological impairment as shown by a higher number of patients receiving heart drugs. No statistically significant differences concerning the possibility to have access to rehabilitative interventions were noted among the three geographical areas. However, patient living in Southern Italy tend to receive rehabilitation more often at home.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479104PMC
March 2017

HLA-G∗14bp Insertion and the KIR2DS1-HLAC2 Complex Impact on Behavioral Impairment in Children with Autism Spectrum Disorders.

Neuroscience 2018 02 13;370:163-169. Epub 2017 Jun 13.

Don C. Gnocchi Foundation IRCCS, Milano, Italy; Department of Pathophysiology and Transplantation, University of Milano, Milano, Italy.

Activating KIR-HLA-C ligand complexes and HLA-G∗14bp insertion/deletion (+/-) polymorphism were associated to Autism Spectrum Disorders (ASD) and were suggested to correlate with inflammation during fetal development. We evaluated whether HLA-G∗14bp(+/-) and KIR-HLA-C complexes are associated with cognitive and behavioral scores and EEG profile in 119 ASD children (58 from Sardinia, 61 from Peninsular Italy). KIR2DS1-C2; KIR2DS2-C1; KIR2DL1-C2; KIR2DL2-C1; KIR2DL3-C1 and HLA-G∗14bp(+/-) were molecularly genotyped by Single Specific Primer PCR and gel electrophoresis. Univariate linear model analysis adjusted for age, gender and provenience showed statistically higher scores of Childhood Autism Rating Scale (CARS) and Autistic Core Behavior in KIR2DS1-C2+/HLA-G∗14bp+ASD children (43.7±1.5, p=0.03; 3.3±0.1, p=0.03, respectively). These results suggested a synergistic polygenic association of KIR2DS1-HLAC2+/HLA-G∗14bp+ pattern with behavioral impairment in ASD children.
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http://dx.doi.org/10.1016/j.neuroscience.2017.06.012DOI Listing
February 2018

The multiple phenotypes of Tourette syndrome and attention-deficit hyperactivity disorder.

Psychiatry Res 2017 12 7;258:611. Epub 2017 Mar 7.

Department of Neuropsychiatry, BSMHFT and University of Birmingham, United Kingdom; School of Life and Health Sciences, Aston University, Birmingham, United Kingdom; Sobell Department of Motor Neuroscience and Movement Disorders, UCL and Institute of Neurology, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.psychres.2017.03.002DOI Listing
December 2017

An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder.

J Autism Dev Disord 2017 May;47(5):1490-1495

Neonatal Immunology Laboratory, Neonatal Intensive Care Unit, Fondazione IRCCS Policlinico San Matteo, 27100, Pavia, Italy.

The aim of this retrospective study, with prospective data collection, was to correlate congenital cytomegalovirus (CMV) infection with autism spectrum disorder (ASD) and to define its prevalence. Seventy proven congenitally-infected infants, born between 2007 and 2012, were referred to our centre for CMV diagnosis and follow-up, which consisted of a consolidated protocol allowing an early evaluation of autism. We considered four children 2-year old, two of whom, at the age of 3, were diagnosed with ASD demonstrating a 2-3 fold higher prevalence (2.86%), than that in general Italian population (0.66-1.36%).Our protocol enabled us to make the earliest diagnosis and highlight the role of the virus among other causes of autism, which may be a long term sequela of congenital CMV.
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http://dx.doi.org/10.1007/s10803-017-3050-3DOI Listing
May 2017

The parental bonding in families of adolescents with anorexia: attachment representations between parents and offspring.

Neuropsychiatr Dis Treat 2017 1;13:319-327. Epub 2017 Feb 1.

Child Neuropsychiatry Unit, C Mondino National Neurological Institute, Pavia; Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

Introduction: The attachment theory is widely used in order to explain anorexia nervosa origin, course and treatment response. Nevertheless, very little literature specifically investigated parental bonding in adolescents with anorexia, as well as the parents' own bonding and intergenerational transmission within the family.

Purpose: This study aims to identify any specific pattern of parental bonding in families of adolescents newly diagnosed with restricting-type anorexia, comparing them to the families of the control group.

Patients And Methods: A total of 168 participants, adolescents and parents (78 belonging to the anorexia group and 90 to the control one), rated the perceived parental styles on the parental bonding instrument. The latent class analysis allowed the exploration of a maternal bonding latent variable and a paternal one.

Results: The main findings showed that a careless and overcontrolling parental style was recalled by the patients' parents, and in particular by the fathers. As far as the adolescents' responses were concerned, patients with anorexia did not seem to express differently their parental bonding perception from participants of the control group.

Conclusion: Clinical implications driven from the results suggest that a therapeutic intervention working on how the parents' own attachment representations influence current relationships may help to modify the actual family functioning and thus the outcome of patients with anorexia.
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http://dx.doi.org/10.2147/NDT.S128418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295792PMC
February 2017