Cohort profile : demographic and clinical characteristics of the MILESTONE longitudinal cohort of young people approaching the upper age limit of their child mental health care service in Europe

Purpose: The presence of distinct child and adolescent mental health services (CAMHS) and adult mental health services (AMHS) impacts continuity of mental health treatment for young people. However, we do not know the extent of discontinuity of care in Europe nor the effects of discontinuity on the mental health of young people. Current research is limited, as the majority of existing studies are retrospective, based on small samples or used non-standardised information from medical records. The MILESTONE prospective cohort study aims to examine associations between service use, mental health and other outcomes over 24 months, using information from self, parent and clinician reports. Participants: Seven hundred sixty-three young people from 39 CAMHS in 8 European countries, their parents and CAMHS clinicians who completed interviews and online questionnaires and were followed up for 2 years after reaching the upper age limit of the CAMHS they receive treatment at. Findings to date: This cohort profile describes the baseline characteristics of the MILESTONE cohort. The mental health of young people reaching the upper age limit of their CAMHS varied greatly in type and severity: 32.8% of young people reported clinical levels of self-reported problems and 18.6% were rated to be ‘markedly ill’, ‘severely ill’ or ‘among the most extremely ill’ by their clinician. Fifty-seven per cent of young people reported psychotropic medication use in the previous half year. Future plans: Analysis of longitudinal data from the MILESTONE cohort will be used to assess relationships between the demographic and clinical characteristics of young people reaching the upper age limit of their CAMHS and the type of care the young person uses over the next 2 years, such as whether the young person transitions to AMHS. At 2 years follow-up, the mental health outcomes of young people following different care pathways will be compared. Trial registration number: NCT03013595

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

Abstract Background Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity. Case presentation We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. Postnatal growth was always below − 2 Standard Deviation for both weight and length and physical examination revealed relative macrocephaly, sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands and feet. Patient’s mother shared the same facial features, and presented sparse hair and small hands. The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia. Molecular analysis of TRPS1 gene showed a heterozygous c.2086C > T;(p.Arg696Ter) mutation both in the patient and her mother, confirming the diagnosis of TRPS, type I. Conclusions Clinical phenotype of TRPS can be subtle and the syndrome often remains undiagnosed. A comprehensive clinical examination and an exhaustive family history are crucial to reach the correct diagnosis, which is essential to perform adequate follow-up and timely therapeutic procedures

Hearing Loss in Children: Clinical-Epidemiological Data from Two Different Provinces of the Same Region

Background: In many countries, neonatal hearing screening programs (NHS) have been available for many years; however, because of the presence of hearing loss at late onset, early hearing detection programs (EHDP) have been implemented. The aim of this study was to evaluate all cases of infantile hearing loss under the care of two different provinces of a regional health service since the introduction of NHS. Methods: Clinical data (the presence of audiological risk factors, age at which children are placed under the care of health service, entity of hearing loss, treatment, and exposure to bilingualism) were retrospectively collected during the period from 1 January 2012 to 31 December 2018, starting from the IT management system used in all of the regional neuropsychiatric services. Results: In total, 124 children were included-116 cases failed the screening, 1 case had an untraceable result, and 7 cases (5.6%) had hearing screening that passed. Most of the children were placed under the care of a neuropsychiatric infantile and adolescence (NPIA) service within the first year of life. The main differences across the two provinces concerned the percentages of audiological risk factors and the number of unilateral hearing loss cases. Conclusion: In order to plan and manage hearing rehabilitation programs for children in the best way, it is very important to know the local clinical-epidemiological features of the population

Genetic and Non Genetic Hearing Loss and Associated Disabilities: An Epidemiological Survey in Emilia-Romagna Region

Hearing loss is one of the most common congenital sensory disorders. It can be associated with several comorbidities, in particular developmental disabilities (DD). In Emilia-Romagna (ER), a region in Northern Italy, Child and Adolescent Mental Health Services (CAMHS) provide the diagnostic framework and treatment for these conditions. The aim of the present study is to evaluate the prevalence of hearing loss, both isolated or in association with comorbidities, in the juvenile population. The study draws its data from the ER Childhood and Adolescent Neuropsychiatry Information System (SINPIAER), an Administrative Healthcare Database collecting the clinical data of all those who have attended CAMHS since 2010. The most frequent type of hearing loss was bilateral sensorineural hearing loss, which was present in 69-72% of the cases, while bilateral conductive hearing loss was the second most common type, ranging from 8 to 10%. Among DD, congenital malformations, mental retardation, visual impairment, and cerebral palsy were the most common. In particular, autism spectrum disorders show increasing incidence and prevalence among CAMHS users in ER region. In-depth knowledge of hearing loss epidemiology and related conditions, such as developmental disabilities, in the juvenile population is crucial for disease prevention, health planning, and resource allocation

Association Between Obesity/Overweight and Functional Gastrointestinal Disorders in Children

Although emerging data indicate that obese/overweight children are more likely to develop functional gastrointestinal disorders (FGIDs) than normal-weight peers, contrasting results have been reported. The present observational, case-control study aimed at estimating the prevalence of FGIDs in obese/overweight children compared to normal-weight peers

Management of Autism Spectrum Disorder in Italian Units of Child and Adolescent Mental Health: Diagnostic and Referral Pathways

Overall, the present pilot study provides detailed information on clinical management for Autism Spectrum Disorder (ASD) referral and diagnosis processes that are mandatory for child and adolescent mental health management. The analysis of ASD management, even if carried out on a selected sample of Child and Adolescent Mental Health (CAMH) units, represents a good approximation of how, in Italian outpatient settings, children and adolescents with ASD are recognised and eventually diagnosed. One of the aims of the study was to verify the adherence of Italian CAMH units to international recommendations for ASD referral and diagnosis and whether these processes can be traced using individual chart reports. Overall, the analysis evidenced that Italian CAMH units adopt an acceptable standard for ASD diagnosis, although the reporting of the ASD managing process in the individual chart is not always accurate. Furthermore, data collected suggest some improvements that CAMH units should implement to fill the gap with international recommendations, namely, establishing a multidisciplinary team for diagnosis, improving the assessment of physical and mental conditions by the use of standardised tools, implementing a specific assessment for challenging behaviours that could allow timely and specific planning of intervention

Factual, reality, makeover. Lo spettacolo della trasformazione nella televisione contemporanea

Factual, reality, makeover sono tre termini che raccontano altrettanti generi della televisione contemporanea. Oggi, infatti, molti show televisivi si focalizzano sul tema della trasformazione pi\uf9 o meno spettacolare, programmi come Extreme makeover: home edition o Ma come ti vesti? cercano soluzioni a problemi pratici e personali in ogni sfera dell\u2019esperienza umana: cucina, fai da te, giardinaggio, moda e trucco, auto e animali domestici, rapporti genitori-figli. Allo stesso tempo, questi show scavano nelle paure e nelle manie della contemporaneit\ue0, diventando racconto collettivo della dialettica tra insoddisfazione e autoaccettazione, tra consegna alle cure dell\u2019esperto e fiducia nelle proprie capacit\ue0. Questo volume esplora, secondo diverse prospettive teoriche e con un approccio multidisciplinare, il ruolo dei programmi di lifestyle e makeover nel racconto televisivo di oggi. Vi hanno contribuito studiosi di diverse discipline (Media studies, sociologia della cultura, antropologia), nonch\ue9 alcuni autori televisivi. Si tratta del primo studio in lingua italiana sul tema della lifestyle television