Monza, Italy
Monza, Italy

Time filter

Source Type

PubMed | Pediatric Genetic Unit, University of Milan Bicocca, Child and Adolescent Neuropsychiatric Unit and Clinical Genetics Unit
Type: Journal Article | Journal: Italian journal of pediatrics | Year: 2016

Living with a disabled child has profound effects on the entire family. With a prevalence of developmental disabilities around 2,5%, there is a considerable need to promote improvements in the health care system. Little is known about changes and adaptations in the lives of affected families and this paucity of information hinders the improvement of services. This study sought to explore the needs and changes in the everyday life of families with children suffering from rare diseases of varying severity, with and without mental disability. The aim was to measure the socio-demographic characteristics, health care problems and living conditions of a large cohort of families with an affected member.A sample of 154 families was recruited between September 2011 and April 2013 to respond to a 136 item questionnaire that explored different areas of concern (diagnosis and follow-up of clinical specialists, relationship with pediatrician, rehabilitation, school, work, institutional and/or private support, child care needs and family relationships).All parents answered the questionnaire. They were satisfied with the services provided in particular for diagnosis and follow-up, relationships with the family pediatrician, rehabilitation services and school, regardless of the severity of condition, presence of intellectual disability (ID) or absence of diagnosis. Negative scores were reported for institutional and/or private support and family relationships in severe conditions.The Health Care System should maintain a family-centered care and a multi-agency working, improving quality of life of families with disabled child to allow adaptation. At present these services are uncoordinated and financial support is poor, resulting in a heavy burden for these families.


Silibello G.,Child and Adolescent Neuropsychiatric Unit | Vizziello P.,Child and Adolescent Neuropsychiatric Unit | Gallucci M.,University of Milan Bicocca | Selicorni A.,Pediatric Genetic Unit | And 6 more authors.
Italian Journal of Pediatrics | Year: 2016

Background: Living with a disabled child has profound effects on the entire family. With a prevalence of developmental disabilities around 2,5 %, there is a considerable need to promote improvements in the health care system. Little is known about changes and adaptations in the lives of affected families and this paucity of information hinders the improvement of services. This study sought to explore the needs and changes in the everyday life of families with children suffering from rare diseases of varying severity, with and without mental disability. The aim was to measure the socio-demographic characteristics, health care problems and living conditions of a large cohort of families with an affected member. Methods: A sample of 154 families was recruited between September 2011 and April 2013 to respond to a 136 item questionnaire that explored different areas of concern (diagnosis and follow-up of clinical specialists, relationship with pediatrician, rehabilitation, school, work, institutional and/or private support, child care needs and family relationships). Results: All parents answered the questionnaire. They were satisfied with the services provided in particular for diagnosis and follow-up, relationships with the family pediatrician, rehabilitation services and school, regardless of the severity of condition, presence of intellectual disability (ID) or absence of diagnosis. Negative scores were reported for institutional and/or private support and family relationships in severe conditions. Conclusions: The Health Care System should maintain a family-centered care and a multi-agency working, improving quality of life of families with disabled child to allow adaptation. At present these services are uncoordinated and financial support is poor, resulting in a heavy burden for these families. © 2016 The Author(s).


PubMed | Molecular Genetics Laboratory, Pediatric Genetic Unit, University of Milan Bicocca, Mbbm Foundation Aos Gerardo and A.O.S. Gerardo
Type: Journal Article | Journal: American journal of medical genetics. Part A | Year: 2016

The Carey-Finema-Ziter syndrome (CFZS, MIM 254940) is an apparently autosomal recessively inherited disorder consisting of the combination of non-progressive congenital myopathy with Moebius and Pierre Robin sequence, facial anomalies and growth delay. Mental development has been described as normal or delayed. Temporomandibular joint (TMJ) ankylosis is the immobility of the joint caused by ankylotic fusion of the mandible to the cranial base or zygoma. It is a serious and disabling condition that may cause problems in mastication, digestion, speech, appearance, and oral hygiene. Most often is a true ankylosis of the TMJ but other pathological mechanisms are described (i.e., the fusion of the coronoid process to temporal bone or with the zygoma, or a variety of soft tissues disorders like Fibrodysplasia Ossificans Progressiva). Here we report a 2-year-old girl fitting with a clinical diagnosis of CFZS associated with a limited mouth opening in which temporomandibular joint ankylosis was suspected. Because it has been postulated that many clinical features in CFZS may only be secondary effects of brainstem anomalies and muscle weakness during development, the limited opening of the mouth observed in our patient could represent a rare clinical feature of CFZS itself. 2016 Wiley Periodicals, Inc.

Loading Pediatric Genetic Unit collaborators
Loading Pediatric Genetic Unit collaborators