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  • 1
    Online Resource
    Online Resource
    Acute hyperkinetic movement disorders in Italian paediatric emergency departments
    BMJ ; 2018
    In:  Archives of Disease in Childhood Vol. 103, No. 8 ( 2018-08), p. 790-794
    Details
    In: Archives of Disease in Childhood, BMJ, Vol. 103, No. 8 ( 2018-08), p. 790-794
    Abstract: Limited data exist on epidemiology, clinical presentation and management of acute hyperkinetic movement disorders (AHMD) in paediatric emergency departments (pED). Methods We retrospectively analysed a case series of 256 children (aged 2 months to 17 years) presenting with AHMD to the pEDs of six Italian tertiary care hospitals over a 2-year period (January 2012 to December 2013). Results The most common type of AHMD was tics (44.5%), followed by tremors (21.1%), chorea (13.7%), dystonia (10.2%), myoclonus (6.3%) and stereotypies (4.3%). Neuropsychiatric disorders (including tic disorders, psychogenic movement disorders and idiopathic stereotypies) were the most represented cause (51.2%). Inflammatory conditions (infectious and immune-mediated neurological disorders) accounted for 17.6% of the cases whereas non-inflammatory disorders (including drug-induced AHMDs, genetic/metabolic diseases, paroxysmal non-epileptic movements and idiopathic AHMDs) accounted for 31.2%. Neuropsychiatric disorders prevailed among preschoolers and schoolers (51.9% and 25.2%, respectively), non-inflammatory disorders were more frequent in infants and toddlers (63.8%), whereas inflammatory conditions were more often encountered among schoolers (73.3%). In 5 out of 36 Sydenham’s chorea (SC) cases, tics were the presentation symptom on admission to emergency department (ED), highlighting the difficulties in early diagnosis of SC. Inflammatory disorders were associated with a longer hospital stay and a greater need of neuroimaging test compared with other disorders. Conclusions This study provides the first large sample of paediatric patients presenting to the ED for AHMDs, helping to elucidate the epidemiology, aetiology and clinical presentation of these disorders.
    Type of Medium: Online Resource
    ISSN: 0003-9888 , 1468-2044
    URL: Article
    DOI: 10.1136/archdischild-2017-314464
    Language: English
    Publisher: BMJ
    Publication Date: 2018
    detail.hit.zdb_id: 1481191-1
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  • 2
    Online Resource
    Online Resource
    Use of neuropsychological tests for the diagnosis of dementia: a survey of Italian memory clinics
    BMJ ; 2018
    In:  BMJ Open Vol. 8, No. 3 ( 2018-03), p. e017847-
    Details
    In: BMJ Open, BMJ, Vol. 8, No. 3 ( 2018-03), p. e017847-
    Abstract: Providing an overview of the neuropsychological tests used in Italian memory clinics (defined as Centers for Cognitive Disorders and Dementias—CCDD in Italy) for the diagnosis of cognitive disorders and dementias. Methods A total of 501 CCDD, out of all 536 active CCDD, were surveyed between February 2014 and August 2015 to verify the characteristics of the centres who performed a comprehensive neuropsychological assessment (NPA), defined as the administration of at least one test for verbal and visual episodic memory, attention, constructional praxis, verbal fluency and executive functions (minimum core tests—MCTs), as part of the diagnostic process. Results A total of 45.7% of Italian CCDD performed a comprehensive MCT as part of the diagnostic process. The logistic regression model showed that the probability of including at least one psychologist in the team was higher in the CCDD that reported using a comprehensive NPA (OR 4.55; 95% CI 2.92 to 7.1), that CCDD in Southern Italy had a lower probability of using an MCT (OR 0.56; 95% CI 0.35 to 0.89) and that the use of an MCT was higher in university/Institute for Scientific Research and Healthcare CCDD (OR 10.97; 95% CI 3.85 to 31.25). Conclusion Almost half of the CCDD administered a set of MCTs; while the remaining centres only performed few tests or screening procedures. The neuropsychological tests used in Italian CCDD were comparable with those used in other European countries. Performing a comprehensive NPA remains the best way to assess and monitor cognitive deficits over time, thus further debate on the current status of NPAs in clinical practice is needed.
    Type of Medium: Online Resource
    ISSN: 2044-6055 , 2044-6055
    URL: Article
    URL: Article
    DOI: 10.1136/bmjopen-2017-017847
    DOI: 10.1136/bmjopen-2017-017847.supp1
    Language: English
    Publisher: BMJ
    Publication Date: 2018
    detail.hit.zdb_id: 2599832-8
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  • 3
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    Dementia among migrants and ethnic minorities in Italy: rationale and study protocol of the ImmiDem project
    BMJ ; 2020
    In:  BMJ Open Vol. 10, No. 1 ( 2020-01), p. e032765-
    Details
    In: BMJ Open, BMJ, Vol. 10, No. 1 ( 2020-01), p. e032765-
    Abstract: Due to the ongoing demographic and epidemiological transitions, estimating the phenomenon of dementia in migrants and minority groups, exploring its characteristics and challenges and implementing dedicated healthcare policies, constitute emerging and urgent matters for Western countries. In the present paper we describe the rationale and design of the ‘Dementia in immigrants and ethnic minorities living in Italy: clinical-epidemiological aspects and public health perspectives” (ImmiDem) project. Methods and analysis Three main aims will be pursued by the ImmiDem project. First, a survey of all Italian dementia services will be conducted with dedicated questionnaires in order to estimate and describe the proportion and characteristics of migrants seeking help for cognitive disturbances. The different clinical approaches for diagnosing dementia and the challenges encountered in the assessment of cognitive functioning and in the provision of care in these groups of individuals will also be investigated. Second, record linkage procedures of data routinely collected in regional Health Information Systems will be conducted in order to identify and monitor migrant individuals with dementia living in the Lazio region. Third, tailored national and local care-coordination pathways and/or good practices dedicated to migrants affected by dementia and cognitive disorders will be identified and promoted. Ethics and dissemination The study protocol was approved by the Ethics Committee of the Italian National Institute of Health (protocol 10749; 5 April 2018). The project was launched in November 2018 and will end in November 2021. The findings of the project will be disseminated through scientific peer-reviewed journals as well as to the public via the Dementia Observatory website ( https://demenze.iss.it ).
    Type of Medium: Online Resource
    ISSN: 2044-6055 , 2044-6055
    URL: Article
    DOI: 10.1136/bmjopen-2019-032765
    Language: English
    Publisher: BMJ
    Publication Date: 2020
    detail.hit.zdb_id: 2599832-8
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  • 4
    Online Resource
    Online Resource
    Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
    BMJ ; 2022
    In:  Journal of Medical Genetics Vol. 59, No. 4 ( 2022-04), p. 399-409
    Details
    In: Journal of Medical Genetics, BMJ, Vol. 59, No. 4 ( 2022-04), p. 399-409
    Abstract: Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders characterised by concurrent hypoplasia of the pons and the cerebellum and variable clinical and imaging features. The current classification includes 13 subtypes, with ~20 known causative genes. Attempts have been made to delineate the phenotypic spectrum associated to specific PCH genes, yet clinical and neuroradiological features are not consistent across studies, making it difficult to define gene-specific outcomes. Methods We performed deep clinical and imaging phenotyping in 56 probands with a neuroradiological diagnosis of PCH, who underwent NGS-based panel sequencing of PCH genes and MLPA for CASK rearrangements. Next, we conducted a phenotype-based unsupervised hierarchical cluster analysis to investigate associations between genes and specific phenotypic clusters. Results A genetic diagnosis was obtained in 43 probands (77%). The most common causative gene was CASK , which accounted for nearly half cases (45%) and was mutated in females and occasionally in males. The European founder mutation p.Ala307Ser in TSEN54 and pathogenic variants in EXOSC3 accounted for 18% and 9% of cases, respectively. VLDLR , TOE1 and RARS2 were mutated in single patients. We were able to confirm only few previously reported associations, including jitteriness and clonus with TSEN54 and lower motor neuron signs with EXOSC3 . When considering multiple features simultaneously, a clear association with a phenotypic cluster only emerged for EXOSC3 . Conclusion CASK represents the major PCH causative gene in Italy. Phenotypic variability associated with the most common genetic causes of PCH is wider than previously thought, with marked overlap between CASK and TSEN54 -associated disorders.
    Type of Medium: Online Resource
    ISSN: 0022-2593 , 1468-6244
    URL: Article
    DOI: 10.1136/jmedgenet-2020-107497
    RVK:
    WA 15000
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 2009590-9
    SSG: 12
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  • 5
    Online Resource
    Online Resource
    Acute ataxia in paediatric emergency departments: a multicentre Italian study
    BMJ ; 2019
    In:  Archives of Disease in Childhood Vol. 104, No. 8 ( 2019-08), p. 768-774
    Details
    In: Archives of Disease in Childhood, BMJ, Vol. 104, No. 8 ( 2019-08), p. 768-774
    Abstract: To evaluate the causes and management of acute ataxia (AA) in the paediatric emergency setting and to identify clinical features predictive of an underlying clinically urgent neurological pathology (CUNP). Study design This is a retrospective medical chart analysis of children (1–18 years) attending to 11 paediatric emergency departments (EDs) for AA in an 8-year period. A logistic regression model was applied to identify clinical risk factors for CUNP. Results 509 patients (mean age 5.8 years) were included (0.021% of all ED attendances). The most common cause of AA was acute postinfectious cerebellar ataxia (APCA, 33.6%). Brain tumours were the second most common cause (11.2%), followed by migraine-related disorders (9%). Nine out of the 14 variables tested showed an OR 〉 1. Among them, meningeal and focal neurological signs, hyporeflexia and ophthalmoplegia were significantly associated with a higher risk of CUNP (OR=3–7.7, p 〈 0.05). Similarly, the odds of an underlying CUNP were increased by 51% by each day from onset of ataxia (OR=1.5, CI 1.1 to 1.2). Conversely, a history of varicella-zoster virus infection and vertigo resulted in a significantly lower risk of CUNP (OR=0.1 and OR=0.5, respectively; p 〈 0.05). Conclusions The most frequent cause of AA is APCA, but CUNPs account for over a third of cases. Focal and meningeal signs, hyporeflexia and ophthalmoplegia, as well as longer duration of symptoms, are the most consistent ‘red flags’ of a severe underlying pathology. Other features with less robust association with CUNP, such as seizures or consciousness impairment, should be seriously taken into account during AA evaluation.
    Type of Medium: Online Resource
    ISSN: 0003-9888 , 1468-2044
    URL: Article
    DOI: 10.1136/archdischild-2018-315487
    Language: English
    Publisher: BMJ
    Publication Date: 2019
    detail.hit.zdb_id: 1481191-1
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