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  1. Article ; Online: Abstracts of the 47th Annual Meeting of the SENP (Société Européenne de Neurologie Pédiatrique)-Paris, March 22-23, 2019.

    Fazzi, Elisa

    Neuropediatrics

    2019  Volume 50, Issue S 01, Page(s) e1

    Language English
    Publishing date 2019-03-26
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0039-1685144
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Abstracts of the 46th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)-Barcelona April 27th to 28th, 2018.

    Fazzi, Elisa

    Neuropediatrics

    2018  Volume 49, Issue S 01, Page(s) e1

    Language English
    Publishing date 2018-04
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0038-1651485
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  3. Article: Abstracts of the 47th Annual Meeting of the SENP (Société Européenne de Neurologie Pédiatrique)–Paris, March 22–23, 2019

    Fazzi, Elisa

    Neuropediatrics

    2019  Volume 50, Issue S 01, Page(s) e1–e1

    Language English
    Publishing date 2019-03-01
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0039-1685144
    Database Thieme publisher's database

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  4. Article ; Online: Cognitive approaches in the rehabilitation of upper limbs function in children with cerebral palsy: a systematic review and meta-analysis.

    Demeco, Andrea / Molinaro, Anna / Ambroggi, Martina / Frizziero, Antonio / Fazzi, Elisa / Costantino, Cosimo / Buccino, Giovanni

    European journal of physical and rehabilitation medicine

    2024  

    Abstract: Introduction: Cerebral palsy (CP) is the predominant cause of children disability. It is characterized by motor, sensory, and postural deficits due to a non-progressive injury to the developing central nervous system. In recent years, new rehabilitation ...

    Abstract Introduction: Cerebral palsy (CP) is the predominant cause of children disability. It is characterized by motor, sensory, and postural deficits due to a non-progressive injury to the developing central nervous system. In recent years, new rehabilitation techniques targeting the central representations of motor patterns have been introduced: the most used are action observation therapy (AOT), motor imagery (MI), and mirror therapy (MT). Aim of this study is to assess the effectiveness of these cognitive strategies on the recovery of upper limb motor functions in children with CP.
    Evidence acquisition: This study was designed as a systematic review and meta-analysis, registered in PROSPERO (CRD42023403794). For the report and methodological definitions of this study, the recommendations of the PRISMA protocol and the Cochrane collaboration, were followed. A total of 3 electronic databases (PubMed, Scopus, and Web of Science) were searched for relevant Randomized Control Trials (RCT) using the combinations of terms "cerebral palsy" AND "action observation" OR "motor imagery" OR "mirror therapy" OR "cognitive therapy." A meta-analysis was carried out to compare cognitive and conventional approaches and combine direct and indirect effects. A random-effects meta-analysis model was used to derive pooled effect estimates.
    Evidence synthesis: Out of 328 records, 12 RCTs were analyzed in this systematic review published from 2012 to 2022, and included 375 children, of whom 195 received cognitive therapies, and 180 underwent conventional rehabilitation. AOT was the most investigated (RCTs N.=7), and showed significant results in the recovery of upper limb motor functions, albeit the meta-analysis demonstrated a non-significant difference in Melbourne Unilateral Upper limb Scale (MUUL) (95% CI: -7.34, 12); in Assisting Hand Assessment (AHA) (95% CI: -4.84, 10.74), and in AbilHand-Kids Questionnaire (95% CI: -1.12, 1.45). Five RCTs investigated MT showing significant improvements in grip and dexterity; none used MI as intervention therapy.
    Conclusions: Cognitive therapies provided with encouraging results in the recovery of upper limb motor functions, although not a clinical effect in bimanual or unimanual performance; they could represent a valid therapeutic solution integrated to conventional rehabilitation in the treatment of upper limb motor impairment in children with CP.
    Language English
    Publishing date 2024-03-21
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2426908-6
    ISSN 1973-9095 ; 1973-9087
    ISSN (online) 1973-9095
    ISSN 1973-9087
    DOI 10.23736/S1973-9087.24.08288-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report.

    Muda, Alice / Malerba, Laura / Giordano, Lucio / Fazzi, Elisa / Accorsi, Patrizia

    American journal of medical genetics. Part A

    2023  Volume 191, Issue 7, Page(s) 1953–1958

    Abstract: PUS7 gene pathogenic variants cause a deficiency in an RNA-independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and ... ...

    Abstract PUS7 gene pathogenic variants cause a deficiency in an RNA-independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and intellectual disability. Since 2018, PUS7 deficiency has been described in 15 patients with different pathogenic variants but similar clinical phenotypes. We describe the case of a male infant with a homozygous truncating pathogenic variant in the PUS7 gene (c.329_332delCTGA; p.Thr110Argfs*4) who, in addition to the previously mentioned features, displays self-injurious behavior, sleep disturbances and motor stereotypies.
    MeSH term(s) Humans ; Male ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Microcephaly/diagnosis ; Microcephaly/genetics ; Microcephaly/pathology ; Phenotype ; Self-Injurious Behavior/complications ; Self-Injurious Behavior/genetics ; Sleep
    Chemical Substances PUS7 protein, human (EC 5.4.-)
    Language English
    Publishing date 2023-04-17
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63212
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Abstracts of the 46th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)–Barcelona April 27th to 28th, 2018

    Fazzi, Elisa

    Neuropediatrics

    2018  Volume 49, Issue S 01, Page(s) e1–e1

    Language English
    Publishing date 2018-04-01
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0038-1651485
    Database Thieme publisher's database

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  7. Article ; Online: New clinical needs and strategies for care in children with neurodisability during COVID-19.

    Fazzi, Elisa / Galli, Jessica

    Developmental medicine and child neurology

    2020  Volume 62, Issue 7, Page(s) 879–880

    MeSH term(s) Betacoronavirus ; COVID-19 ; Child ; Child Health Services/organization & administration ; Coronavirus Infections ; Humans ; Nervous System Diseases/therapy ; Pandemics ; Pneumonia, Viral ; SARS-CoV-2 ; Telerehabilitation/organization & administration
    Keywords covid19
    Language English
    Publishing date 2020-05-02
    Publishing country England
    Document type Letter
    ZDB-ID 80369-8
    ISSN 1469-8749 ; 0012-1622
    ISSN (online) 1469-8749
    ISSN 0012-1622
    DOI 10.1111/dmcn.14557
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Questionnaires as screening tools for children with cerebral visual impairment.

    Fazzi, Elisa / Micheletti, Serena

    Developmental medicine and child neurology

    2020  Volume 62, Issue 8, Page(s) 891

    MeSH term(s) Brain Diseases ; Child ; Humans ; Mass Screening ; Surveys and Questionnaires ; Vision Disorders/diagnosis ; Vision Disorders/etiology
    Language English
    Publishing date 2020-02-21
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 80369-8
    ISSN 1469-8749 ; 0012-1622
    ISSN (online) 1469-8749
    ISSN 0012-1622
    DOI 10.1111/dmcn.14497
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Visual intervention in early onset visual impairment: A review.

    Micheletti, Serena / Merabet, Lotfi B / Galli, Jessica / Fazzi, Elisa

    The European journal of neuroscience

    2022  Volume 57, Issue 12, Page(s) 1998–2016

    Abstract: Vision is a primary and motivating sense. Early visual experience derived from the external world is known to have an important impact on the development of central visual pathways, and not surprisingly, visual impairment constitutes a risk factor for ... ...

    Abstract Vision is a primary and motivating sense. Early visual experience derived from the external world is known to have an important impact on the development of central visual pathways, and not surprisingly, visual impairment constitutes a risk factor for overall development. In light of the role of vision in early brain development, infants and young children with visual impairment should be thus entitled to early and effective visual intervention programmes. In this review, we discuss early visual interventions in infants and young children with visual impairment, focusing on their contents and outcomes. We defined a PICO format to critically review different models with a particular focus on parent-mediated and therapist-mediated approaches. We consider protocols that involved direct manipulation or improvement of the infants' visual inputs or were based on behavioural strategies and communication towards infants with visual impairment. We also provide an overview of the effectiveness of these protocols. A total of nine intervention protocols were selected for the purposes of this review. Substantial agreement regarding the importance of promoting the enrichment of infant environments, and more specifically in the context of active play that engages the whole family, has been reported in most of the studies. However, there is no clear agreement on methodological aspects, including clinical population characteristics, outcome measures, length of treatment and follow-up programmes. Further high-quality, carefully designed and adequately reported studies are needed in order to improve the clinical efficacy of these approaches to treating infants with visual impairment.
    MeSH term(s) Infant ; Child ; Humans ; Child, Preschool ; Vision, Ocular ; Vision Disorders/therapy
    Language English
    Publishing date 2022-11-16
    Publishing country France
    Document type Review ; Journal Article
    ZDB-ID 645180-9
    ISSN 1460-9568 ; 0953-816X
    ISSN (online) 1460-9568
    ISSN 0953-816X
    DOI 10.1111/ejn.15841
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  10. Article ; Online: Long-Term Visual and Neurodevelopmental Outcomes in Two Children with Congenital Nystagmus Secondary to Methadone Exposure In utero.

    Galli, Jessica / Loi, Erika / Franzoni, Alessandra / Accorsi, Patrizia / Micheletti, Serena / Pansera, Laura / Fazzi, Elisa

    Neuropediatrics

    2023  Volume 54, Issue 6, Page(s) 412–416

    Abstract: Methadone is used as a substitute for illicit opioids during pregnancy. However, the real effect of this molecule on visual and neurodevelopmental outcomes of the children exposed is not fully understood, since studies considered subjects born to ... ...

    Abstract Methadone is used as a substitute for illicit opioids during pregnancy. However, the real effect of this molecule on visual and neurodevelopmental outcomes of the children exposed is not fully understood, since studies considered subjects born to polydrug-dependent mothers and followed for few months/years. We report the long-term outcomes of two infants with congenital nystagmus solely exposed to methadone in utero. Neurological and neurovisual evaluations were performed every year from the first year of life to 11 years of age. One child was diagnosed with developmental coordination disorder. Both cases presented with ophthalmologic (refractive errors), oculomotor (nystagmus and fixation, smooth pursuit, and saccades dysfunctions), and perceptive problems (reduced visual acuity and contrast sensitivity). While nystagmus and other oculomotor dysfunctions remained stable over time, visual acuity and contrast sensitivity improved; refractive errors worsened and required corrective lenses. Both children showed normal neurodevelopmental and cognitive profile. This report highlights the long-term visual and developmental outcomes of two children exclusively exposed to methadone underlining the possibility of a visual dysfunction and motor coordination disorder. These observations prompt the need to investigate prenatal drug exposure as a cause of congenital nystagmus.
    MeSH term(s) Child ; Female ; Humans ; Infant ; Pregnancy ; Methadone/adverse effects ; Nystagmus, Congenital/chemically induced ; Prenatal Exposure Delayed Effects/chemically induced ; Refractive Errors ; Vision Disorders/chemically induced ; Vision Disorders/diagnosis
    Chemical Substances Methadone (UC6VBE7V1Z)
    Language English
    Publishing date 2023-08-14
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0043-1771388
    Database MEDical Literature Analysis and Retrieval System OnLINE

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