Listening to the patient as a possible route to cost-effective rehabilitation: a case report

<p>Abstract</p> <p>Introduction</p> <p>Adolescents with cerebral palsy often do not need a specific rehabilitative treatment; however, when specific needs are expressed, clinicians should listen and try to answer them.</p> <p>Case presentation</p> <p>We present the case of a 17-year-old Italian male patient with hemiplegia who had received standard physiotherapy and, ultimately, after a period of adapted physical activity performed in a group, was under consideration for discharge. However, due to unsatisfactory hand control, he asked for help to reach a personal goal, the ability to drive a motorbike, without surgery. Functional taping showed efficacy, but was neither cost-effective nor practical for the patient and his family; by contrast, a dynamic orthosis associated with training in a real-life environment was instead successful.</p> <p>Conclusion</p> <p>The present case underlines the importance of considering solutions involving the motivation and compliance of the patient in order to improve his activity and participation.</p

Triadic interactions in families of adolescents with anorexia nervosa and families of adolescents with internalizing disorders

open5noThe latest studies and practice guidelines for the treatment of adolescent patients with anorexia nervosa agree in pointing out the key role played by parents in determining the young patients' therapeutic possibilities and outcomes. Still family functioning has usually been studied using only self-reported instruments. The aim of the present study is therefore to investigate the triadic interactions within the families of adolescents with anorexia nervosa using a semi-standardized observational tool based on a recorded play session, the Lausanne Trilogue Play (LTP). Parents and adolescent daughters, consecutively referred to adolescent neuropsychiatric services, participated in the study and underwent the observational procedure (LTP). The 20 families of adolescent girls with anorexia nervosa (restricting type) were compared with 20 families of patients with internalizing disorders (anxiety and depression). The results showed different interactive patterns in the families of adolescents with anorexia nervosa: they had greater difficulties in respecting roles during the play, maintaining the joint attention and in sharing positive affect, especially in the three-together phase (third phase). The majority of these families (12) exhibited collusive alliances. The parental subsystem appeared frequently unable to maintain a structuring role, i.e., providing help, support and guidance to the daughters, while the girls in turn often found it hard to show independent ideas and develop personal projects. Parents experienced difficulty in carving out a couple-specific relational space, from which the ill daughter was at least temporarily excluded also when they were asked to continue to interact with each other, letting the daughter be simply present in a third-part position (fourth phase). The study of the triadic interactions in the families of adolescents with anorexia nervosa may help to shift the attention from the exclusive mother-daughter relation to the involvement of the father, and of the parental couple as a whole. The family functioning is in fact well established as a maintaining factor of anorexia nervosa or vice versa as a facilitating factor in the therapeutic process. © 2017 Balottin, Mannarini, Mensi, Chiappedi and Gatta.openBalottin, Laura; Mannarini, Stefania; Mensi, Martina M.; Chiappedi, Matteo; Gatta, MichelaBalottin, Laura; Mannarini, Stefania; Mensi, Martina M.; Chiappedi, Matteo; Gatta, Michel

Assessing Family Functioning Before and After an Integrated Multidisciplinary Family Treatment for Adolescents With Restrictive Eating Disorders

The present study presents an investigation of family functioning in the families of adolescents with severe restrictive eating disorders (REDs) assessed before and 6 months after a multidisciplinary family treatment program that combined psychodynamic psychotherapy, parental role intervention, and triadic or family-centered interventions. Nutritional counseling and neuropsychiatric monitoring of the overall treatment and care process were also provided. Family functioning was assessed using the clinical version of the Lausanne Trilogue Play (LTPc), a semi-structured procedure for observing family dynamics, previously validated for this patient population. The LTPc is divided into four phases. In phase 1, the mother interacts with the patient while the father assumes the role of observer. In phase 2, the father plans an activity with the patient while the mother observes. In phase 3, all the family members interact. Finally, in phase 4, the parents talk while the adolescent observes. A significant change emerged in family functioning after the treatment, but only for the interactive phase 2, when the father is required to interact with the daughter while the mother silently observes. The results of this study suggest that a relatively brief multidisciplinary treatment program may significantly improve family functioning in the families of patients diagnosed with severe REDs. Although appropriate clinical trials are needed to further test the efficacy of this treatment, the results also reinforce the concept that treatment programs targeting the individual patient and both the parents should be a first-line approach in adolescents with severe REDs

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome

Introduction Glucose Transporter Type I Deficiency Syndrome (GLUT1DS) classical symptoms are seizures, involuntary movements, and cognitive impairment but so far the literature has not devoted much attention to the last. Methods In our retrospective study involving 25 patients with established GLUT1DS diagnosis, we describe the cognitive impairment of these patients in detail and their response to the ketogenic diet in terms of cognitive improvement. Results We outlined a specific cognitive profile where performance skills were more affected than verbal ones, with prominent deficiencies in visuospatial and visuomotor abilities. We demonstrated the efficacy of ketogenic diet (KD) on cognitive outcome, with particular improvement tin total and verbal IQ; we found that timing of KD introduction was inversely related to IQ outcome: the later the starting of KD, the lower the IQ, more notable nonverbal scale (verbal IQ correlation coefficient -0.634, p-value = 0.015). We found a significant direct correlation between cognition and CSF/blood glucose ratio values: the higher the ratio, the better the cognitive improvement in response to diet (from T0-baseline evaluation to T1 on average 18 months after introduction of KD-: TIQ correlation coefficient 0.592, p-value = 0.26; VIQ correlation coefficient 0.555, p-value = 0.039). Finally, we demonstrated that a longer duration of treatment is necessary to find an improvement in patients with "severely low ratio." Conclusion Our results were consistent with the hypothesis that timing of the diet introduction is a predictive factor of cognitive outcome in these patients, confirming that earlier initiation of the diet may prevent the onset of all GLUT1DS symptoms: epilepsy, movement disorders, and cognitive impairment

Identifying developmental coordination disorder: MOQ-T validity as a fast screening instrument based on teachers' ratings and its relationship with praxic and visuospatial working memory deficits.

The present study was devoted to test the validity of the Italian adaptation of the Motor Observation Questionnaire for Teachers (MOQ-T, Schoemaker, Flapper, Reinders-Messelink, & De Kloet, 2008) as a fast screening instrument, based on teachers' ratings, for detecting developmental coordination disorders symptoms and to study its relationship with praxic and visuospatial working memory deficits. In a first study on a large sample of children, we assessed the reliability and structure of the Italian adaptation of the MOQ-T. Results showed a good reliability of the questionnaire and a hierarchical structure with two first-order factors (reflecting motor and handwriting skills), which are influenced by a second-order factor (general motor function) at the top. In a second study, we looked at the external validity of the MOQ-T and found that children with symptoms of Developmental Coordination Disorder (children with high scores on the MOQ-T) also had difficulty reproducing gestures, either imitating others or in response to verbal prompts. Our results also showed that children with high MOQ-T scores had visuospatial WM impairments. The theoretical and clinical implications of these findings are discussed

Association between SNAP-25 gene polymorphisms and cognition in autism: functional consequences and potential therapeutic strategies.

Synaptosomal-associated protein of 25 kDa (SNAP-25) is involved in different neuropsychiatric disorders, including schizophrenia and attention-deficit/hyperactivity disorder. Consistently, SNAP-25 polymorphisms in humans are associated with hyperactivity and/or with low cognitive scores. We analysed five SNAP-25 gene polymorphisms (rs363050, rs363039, rs363043, rs3746544 and rs1051312) in 46 autistic children trying to correlate them with Childhood Autism Rating Scale and electroencephalogram (EEG) abnormalities. The functional effects of rs363050 single-nucleotide polymorphism (SNP) on the gene transcriptional activity, by means of the luciferase reporter gene, were evaluated. To investigate the functional consequences that SNAP-25 reduction may have in children, the behaviour and EEG of SNAP-25(+/-) adolescent mice (SNAP-25(+/+)) were studied. Significant association of SNAP-25 polymorphism with decreasing cognitive scores was observed. Analysis of transcriptional activity revealed that SNP rs363050 encompasses a regulatory element, leading to protein expression decrease. Reduction of SNAP-25 levels in adolescent mice was associated with hyperactivity, cognitive and social impairment and an abnormal EEG, characterized by the occurrence of frequent spikes. Both EEG abnormalities and behavioural deficits were rescued by repeated exposure for 21 days to sodium salt valproate (VLP). A partial recovery of SNAP-25 expression content in SNAP-25(+/-) hippocampi was also observed by means of western blotting. A reduced expression of SNAP-25 is responsible for the cognitive deficits in children affected by autism spectrum disorders, as presumably occurring in the presence of rs363050(G) allele, and for behavioural and EEG alterations in adolescent mice. VLP treatment could result in novel therapeutic strategies

Waiting times for diagnosis of attention-deficit hyperactivity disorder in children and adolescents referred to Italian ADHD centers must be reduced

BACKGROUND: To investigate timely access to and the time needed to complete the diagnostic path of children and adolescents with suspected attention deficit hyperactivity disorder (ADHD) in the 18 Italian Lombardy Region ADHD reference centers. METHODS: Data of children and adolescents enrolled in the Regional ADHD disease-oriented Registry for suspected ADHD who requested their first visit in 2013-2017 were analyzed. RESULTS: The sample comprised 2262 children and adolescents aged 5-17\u2009years who accessed the ADHD centers for diagnostic classification and management. The median waiting time was of 177\u2009days (range 66-375) from the request for the initial appointment to the completion of the diagnostic path, with a three - fold difference between centers. In addition to the center, the strongest significant predictors of long waiting times were age comorbidities, the severity of the disorder, and having already completed some diagnostic procedures provided by the common standard path. CONCLUSIONS: To guarantee an equal standard of care in ADHD centers for all children and adolescents there is a pressing need to reduce the times to complete the diagnostic path. It is the task of both policymakers and each center to optimize the quality of the service and of the care delivered

Italian regional health service costs for diagnosis and 1-year treatment of ADHD in children and adolescents

The main aim of this study was to estimate the costs associated with diagnostic assessment and 1-year therapy in children and adolescents enrolled in 18 ADHD reference centres. Data concerning 1887 children and adolescents from the mandatory ADHD registry database during the 2012-2014 period were analysed. The overall diagnostic and treatment costs per patient amounts to \u20ac574 and \u20ac830, respectively. The ADHD centre, the school as sender, and the time to diagnosis constitute cost drivers. Non-pharmacological therapy resulted as being more expensive for patients concomitantly treated with drugs (\u20ac929) compared to those treated with psychological interventions alone (\u20ac590; p=0.006). This study gives the first and reliable estimate of the costs associated with both diagnosis and treatment of ADHD in Italy. Although costs associated with mental disorders are difficult to estimate, continuing efforts are need to define costs and resources to guarantee appropriate care, also for ADHD

Anterior and posterior commissures in agenesis of the corpus callosum: alternative pathways for attention processes?

Developmental absence (agenesis) of the corpus callosum (AgCC) is a congenital brain malformation resulting from disruption of corpus callosum formation, a structure that is crucial for the transfer and integration of information, including attention processes, across the brain. This study aimed to investigate previously proposed candidates for alternative inter-hemispheric pathways in AgCC by examining (1) white matter volume and microstructure of the anterior and posterior commissures in children with AgCC compared to typically developing controls (TDC), and (2) in children with AgCC, examine the associations of white matter volume and microstructure of the anterior and posterior commissures and any remaining corpus callosum with attention processes. Participants were 21 children with AgCC (13 complete, 8 partial) recruited from The Royal Children's Hospital, Melbourne, and 30 TDC aged 8–17 years. T1-and diffusion-weighted MR sequences were used to calculate volume and microstructural parameters. Neuropsychological testing assessed attention processes. We found the anterior commissure was significantly larger in volume in children with AgCC than TDC (p = .027), with reduced mean FA (p = .001) associated with increased mean RD (p < .001). In children with AgCC, we found microstructural properties of the anterior commissure associated with attentional processes, specifically, mean FA of the anterior commissure was associated with better divided attention (p = .03), and the association between alerting attention and mean AD and RD was found to be moderated by age (p = .027, p = .008) and the degree of corpus callosum agenesis (p = .025, p = .016). Furthermore, in partial AgCC, larger posterior commissure volume was associated with better orienting attention (p = .035). In conclusion, we provide evidence that the volume and microstructure of the anterior commissure are altered in children with AgCC, and this neuroplastic response might have an influence on attention processes

Herbals and natural dietary supplements in psychiatric practice.

There is some evidence that links the increase of mental disorders' prevalence with a deterioration of Western countries' nutritional habits and it is found that the use of herbal and "natural" food supplements to treat different disorders is increasing. With factors such as chronic illness, poor health, emotional distress, and quality of life influencing the desire for complementary medicine, patients with comorbid medical and psychiatric problems seem likely to turn to this approach. We reviewed the most commonly used herbal and dietary supplements for which a certain efficacy on psychiatric symptoms or disorders has been claimed, checking current Pubmed-indexed literature (the most important being St. John's wort, Omega-3 fatty acids, valerian, Kava, Ginkgo, folate, B vitamins, SAMe, Inositol). There is an evidence of efficacy for some of these herbs an supplements, but current studies are often insufficient to reach a final conclusion; still patents are being requested and registered. Many different areas (including efficacy, tolerability, optimal dosing, adequate shelf life, drug and non-pharmacological interactions) need to be thoroughly studied; moreover political decisions need to be scientifically guided in order to best serve psychiatric patients' interests and to prevent the usage of expensive and sometimes un-useful therapies. This implies that a scientific strategy has to be used to rule out any third-part economical interest which could in any way influence therapeutic choices