A randomized controlled trial comparing behavioral, educational, and pharmacological treatments in youths with chronic tic disorder or Tourette syndrome

Context: The existing literature on the treatment of pediatric chronic tic disorder (CTD) and Tourette syndrome (TS) indicates that both behavioral therapy (BT) and pharmacotherapy (PT) are effective for reducing symptoms. Objective: To evaluate the efficacy of BT compared to psychoeducation (PE) or PT for reducing tics and co-occurring symptoms and for improving quality of life (QoL) in a sample of youths with CTD and TS. Design: A 10 weeks, 2 sites (Catania, Rome) randomized controlled trial. Participants were randomized to receive one of the following treatments: BT, PE, or PT. Participants: 110 outpatients aged between 8 and 17 years affected by CTD or TS. Results: Patients in the BT and PT groups showed a significant reduction in the severity of tic symptoms, while the PE group did not show any improvement. PT was more effective for reducing obsessive compulsive symptoms than BT, while PE group did not show any improvement. Both BT and PT groups showed an improvement in most QoL domains, whereas no differences were found in the PE group. Conclusions: BT is as effective as pharmacological therapy in the treatment of tic disorders in children and adolescents, thus offering an alternative to medications for CTD and TS

Antithrombotic therapy with rivaroxaban in five patients with paroxysmal nocturnal haemoglobinuria and thrombotic events

Five patients with paroxysmal nocturnal haemoglobinuria and thrombotic complications under oral antithrombotic treatment with vitamin K antagonist were switched to receive the direct oral anticoagulant rivaroxaban an factor Xa inhibitor. In all five patients haematological and biochemical parameters and adverse events were evaluated for a period of twelve months. Therapy with rivaroxaban was well tolerated in all cases and one patient showed a significant reduction of bleeding and transfusion requirement. All patients obtained a significant reduction in days of hospitalization with a consequent improvement in their quality of life after rivaroxaban treatment

Developmental profile and diagnoses in children presenting with motor stereotypies

Introduction: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders (“primary stereotypies”, associated with Autistic Spectrum Disorder, Intellectual Disabilities, genetic syndromes, sensory impairment). Aim of this study was to get an accurate analysis on the relationship between stereotypies and neurodevelopmental disorders. Methods: We studied 23 children (3 girls) aged 36 to 95 months, who requested a consultation due to the persistence or the increase severity of motor stereotypies. None of patients had a previous diagnosis of ASD. The assessment included the Motor Severity Stereotypy Scale (MSSS), the Repetitive Behavior Scale-Revised (RBS-R), the Raven’s Colored Progressive Matrices (CPM), the Child Behavior Checklist for ages 1 ½ -5 or 4-18 (CBCL), the Social Responsiveness Scale (SRS) and the Autism Diagnostic Observation Schedule- Second edition (ADOS 2). Results: All patients were showing motor stereotypies for periods of time varying from 6 to 77 months. The MSSS showed each child had a limited number of stereotypies; their frequency and intensity were mild; the interference of stereotypies was variable; the impairment in the daily life was mild. The RBS-R scores resulted positive for the subscale of “Stereotypic behaviors” in all children; moreover, several children presented other repetitive behaviors, mainly “Ritualistic behavior” and “Sameness behavior”. All patients showed a normal cognitive level. The CBCL evidenced behavioral problems in 22% of the children: Internalizing problems, Attention and Withdrawn were the main complaints. On the SRS, all but one of the tested patients obtained clinical scores in the clinical range at least in one area. On the ADOS 2, four patients obtained scores indicating a moderate level of ASD symptoms, four had a mild level and fifteen showed no or minimal signs of ASD. Discussion: Motor stereotypies in children with normal cognitive level represent a challenging diagnostic issue for which a finely tailored assessment is mandatory in order to define a precise developmental profile. Notably, a careful and cautious use of standardized tests is warranted to avoid misdiagnosis. Furthermore, it is hard to consider motor stereotypies, even the primary ones, exclusively as a movement disorder

Developmental motor profile in preschool children with primary stereotypic movement disorder

Aim. Different neuropsychological dysfunctions have been described in children with primary Stereotypic Movement Disorder (SMD), mainly attention or motor coordination problems. Up to now with no study has evaluated psychomotor functions in preschoolers primary SMD. The aim of this observational study was to gather information on the motor profiles of SMD patients in this age range in comparison with typically developing children. Patients and Methods. Twenty-six children (four girls) aged 36 to 76 months (mean= 53 ±10) with primary SMD were assessed by a structured evaluation including the Movement Assessment Battery for Children-Second Edition (MABC-2), the Beery-Buktenica Developmental test of Visual-Motor Integration (VMI), the Repetitive Behaviour Scale-Revised (RBS-R), the Motor Severity Stereotypy Scale (MSSS), and the Child Behaviour Checklist (CBCL). The diagnoses of Intellectual Disability or Autism Spectrum Disorder were exclusion criteria from the study. A comparison group of twenty-seven (four girls) typically developing children without stereotypies aged 36 to 59 months (mean= 48 ±7) was also examined. Results. The MABC-2 total score was lower than 15th percentile in fifteen children with SMD (58%); the worst performances were observed in Balance and Manual Dexterity subtests. The motor coordination score of VMI was lower than 15th percentile in ten children (38%). The majority of the children with low scores at MABC-2 also had low scores at the motor coordination subscale of VMI. MABC-2 standard scores of the clinical group were significantly lower than those of controls on MABC-2 Total, Balance, and Ball Skills subtests. Conclusion. The finding of widespread dysfunction of gross and fine motor abilities in preschoolers with primary SMD seems to delineate a peculiar phenotype and could provide new approaches to the management of this neurodevelopment disorder

Health-related quality of life in patients with Gilles de la Tourette syndrome at the transition between adolescence and adulthood

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental condition characterised by tics and comorbid behavioural problems, affecting predominantly male patients. Tic severity typically fluctuates over time, with a consistent pattern showing improvement after adolescence in a considerable proportion of patients. Both tics and behavioural co-morbidities have been shown to have the potential to affect patients’ health-related quality of life (HR-QoL) in children and adults with persisting symptoms. In this study, we present the results of the first investigation of HR-QoL in patients with Gilles de la Tourette syndrome at the transition between adolescence and adulthood using a disease-specific HR-QoL measure, the Gilles de la Tourette Syndrome-Quality of Life-Children and Adolescents scale. Our results showed that patients with GTS and more severe co-morbid anxiety symptoms reported lower HR-QoL across all domains, highlighting the impact of anxiety on patient’s well-being at a critical stage of development. Routine screening for anxiety symptoms is recommended in all patients with GTS seen at transition clinics from paediatric to adult care, to implement effective behavioural and pharmacological interventions as appropriate

Nationwide Survey of Healthcare Services for Autism Spectrum Disorders (ASD) in Italy

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Moderate Neonatal Stress Decreases Within-Group Variation in Behavioral, Immune and HPA Responses in Adult Mice

BACKGROUND: The significance of behavioral neuroscience and the validity of its animal models of human pathology largely depend on the possibility to replicate a given finding across different laboratories. Under the present test and housing conditions, this axiom fails to resist the challenge of experimental validation. When several mouse strains are tested on highly standardized behavioral test batteries in different laboratories, significant strain x lab interactions are often detected. This limitation, predominantly due to elevated within-group variability observed in control subjects, increases the number of animals needed to address fine experimental questions. Laboratory rodents display abnormal stress and fear reactions to experimental testing, which might depend on the discrepancy between the stability of the neonatal environment and the challenging nature of the adult test and housing conditions. METHODOLOGY/PRINCIPAL FINDINGS: Stimulating neonatal environments (e.g. brief maternal separations, increased foraging demands or maternal corticosterone supplementation) reduce stress and fear responses in adulthood. Here we tested whether reduced fearfulness associated with experimental testing would also reduce inter-individual variation. In line with our predictions, we show that a moderate elevation in neonatal corticosterone through maternal milk significantly reduces fear responses and inter-individual variability (average 44%) in adult mouse offspring. CONCLUSIONS/SIGNIFICANCE: We observed reduced variation in pain perception, novelty preference, hormonal stress response and resistance to pathogen infection. This suggests that the results of this study may apply to a relatively broad spectrum of neuro-behavioral domains. Present findings encourage a reconsideration of the basic principles of neonatal housing systems to improve the validity of experimental models and reduce the number of animals used

Early post-cooling brain magnetic resonance for the prediction of neurodevelopmental outcome in newborns with hypoxic-ischemic encephalopathy

Aim and objectives: This study aimed to evaluate the predictive role of early post-cooling brain magnetic resonance for developmental outcome in newborns with hypoxic-ischemic encephalopathy. Materials and methods: A retrospective cohort study was performed on 29 consecutive patients through magnetic resonance evaluation (visual analysis of the images and scoring of the detected lesions; mean diffusivity of semioval centre and lenticular nuclei; and area under the curve of basal ganglia N-acetylaspartate at proton magnetic resonance spectroscopic imaging) and Griffiths Mental Development Scales-third edition at 12 and 24 months. Results: Brain magnetic resonance was performed at a mean age of 5.7 ± 3.7 days. Newborns with no/minor magnetic resonance abnormalities had a better developmental outcome than patients with moderate or severe lesions. Structural and spectroscopic abnormalities in basal ganglia resulted in the most significant predictors for an unfavorable outcome. Conclusion: Normal magnetic resonance in early post-cooling phases is strongly associated with a favorable developmental outcome

Use of Machine Learning to Investigate the Quantitative Checklist for Autism in Toddlers (Q-CHAT) towards Early Autism Screening.

In the past two decades, several screening instruments were developed to detect toddlers who may be autistic both in clinical and unselected samples. Among others, the Quantitative CHecklist for Autism in Toddlers (Q-CHAT) is a quantitative and normally distributed measure of autistic traits that demonstrates good psychometric properties in different settings and cultures. Recently, machine learning (ML) has been applied to behavioral science to improve the classification performance of autism screening and diagnostic tools, but mainly in children, adolescents, and adults. In this study, we used ML to investigate the accuracy and reliability of the Q-CHAT in discriminating young autistic children from those without. Five different ML algorithms (random forest (RF), naïve Bayes (NB), support vector machine (SVM), logistic regression (LR), and K-nearest neighbors (KNN)) were applied to investigate the complete set of Q-CHAT items. Our results showed that ML achieved an overall accuracy of 90%, and the SVM was the most effective, being able to classify autism with 95% accuracy. Furthermore, using the SVM-recursive feature elimination (RFE) approach, we selected a subset of 14 items ensuring 91% accuracy, while 83% accuracy was obtained from the 3 best discriminating items in common to ours and the previously reported Q-CHAT-10. This evidence confirms the high performance and cross-cultural validity of the Q-CHAT, and supports the application of ML to create shorter and faster versions of the instrument, maintaining high classification accuracy, to be used as a quick, easy, and high-performance tool in primary-care settings