Rodzicielskie uwarunkowania zespołów delecji 22q11.2

Grygieńczo-Raźniewska, Edyta; Studniak, Ewa; Zajączek, Stanisław

doi:10.1016/s0031-3939(08)70216-6

Cited by 3 publications

(2 citation statements)

References 32 publications

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“…1 Nazwa jest akronimem powstałym od angielskich wyrażeń: Ccardiac defects (wady serca), Aabnormal facies (dysmorfia twarzy), Tthymic hypoplasia (hipoplazja grasicy), Ccleft palate (rozszczep podniebienia), Hhypocalcaemia (hipokalcemia wtórna do aplazji przytarczyc) oraz od numeru chromosomu, na którym doszło do mikrodelecji [patrz: Grygieńczo-Raźniewska, Studniak, Zajączek, 2008].…”

Section: Charakterystyka Zespołu Digeorge'aunclassified

Logopedyczna ocena sześciomiesięcznego niemowlęcia z zespołem DiGeorge’a

Gacka¹

2021

logopaedica

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Zespół DiGeorge’a to zestaw wad wrodzonych oraz nieprawidłowości spowodowanych delecją chromosomu 22 (utratą fragmentu długiego ramienia tego chromosomu). Do objawów schorzenia zalicza się między innymi: wady serca, hipokalcemię (obniżony poziom wapnia w organizmie), zaburzenia odporności, a także dysmorfizm twarzy, nieprawidłowości w budowie podniebienia, obniżone napięcie mięśniowe, nieprawidłowości w rozwoju poznawczym, niedosłuch, zaburzenia mowy. Pacjenci z tym rozpoznaniem wymagają wielospecjalistycznej opieki, w tym pomocy logopedycznej. W artykule przedstawiono wyniki diagnozy czynności prymarnych mowy, reakcji słuchowych oraz umiejętności komunikacyjnych i społecznych sześciomiesięcznego dziecka z zespołem DiGeorge’a, jak również sformułowane na jej podstawie zalecenia terapeutyczne.

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Section: Charakterystyka Zespołu Digeorge'aunclassified

Logopedyczna ocena sześciomiesięcznego niemowlęcia z zespołem DiGeorge’a

Gacka¹

2021

logopaedica

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“…These issues can, in turn, impair the caregivers’ capacity to look after the affected children. However, whereas Polish researchers tend to concentrate on the clinical aspect of 22q11.2DS [ 19 , 20 ], with patients as the centre of professional attention, 22q11.2DS caregivers are frequently ignored. The objective of the present study is to identify and explain the expectations and concerns of Polish parents of 22q11.2DS children.…”

Section: Introductionmentioning

confidence: 99%

Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome

Walkowiak,

Domaradzki

2023

Orphanet J Rare Dis

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Background For a variety of reasons, raising a child with 22q11.2DS has significant psychosocial and financial repercussions for the family caregivers. Our aim was to identify and explain the expectations and concerns of Polish parents of 22q11.2DS children. An online survey was developed consisting of four sections: demographics, emotions experienced by caregivers while performing their duties, attitudes of the respondents about providing care, and finally different aspects of the caregivers’ life satisfaction. The study was conducted with the support of the Polish 22q11 Association. Results Forty-four caregivers of Polish origin completed the survey, all but one of whom were mothers. Thirty-four per cent (n = 15/44) declared full-time employment. According to 73% (n = 32/44) of those surveyed, the child’s disease has not harmed their relationship with the partner. In spite of the fact that the median diagnosis time was 1.9 years (ranging from 0 to 12 years), the caregivers indicated that they had contacted on average 3.9 doctors before obtaining the right diagnosis (range 1–17). The Internet was the main source of information and knowledge about their child’s disease for 93% of respondents (n = 41/44), while for 54% (n = 24/44) it was the association for people with 22q11DS. Only 26% rated as very good or good the support for caregivers offered by the central and local government or its agendas. The physicians’ knowledge about 22q11DS was positively rated by 14% of respondents (n = 6/44). The most frequently chosen source of support for 66% of respondents (n = 29/44) turned out to be their families, and for 34% – a Facebook support group (n = 15/44). Asked how often they rated their quality of life (QoL) highly, none of our respondents chose the option “always”, although 64% (28/44) gave the answer “often”. Conclusion Our study is the first one in Poland to develop an online survey specifically for use with caregivers of paediatric patients with 22q11.2DS. Our respondents revealed that caring for 22q11.2 children entails a burden that extends far beyond clinical facets and has a significant impact on every dimension of the caregivers’ lives, including their mental health, everyday activities, families, professional career and social lives. At the same time, caregivers are de facto left alone with the bureaucracy of the healthcare system.

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22q11.2 microdeletion syndrome as a multidisciplinary problem

Skoczyńska

Lehman

2017

PEDIATR MED RODZ

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Rodzicielskie uwarunkowania zespołów delecji 22q11.2

Cited by 3 publications

References 32 publications

Logopedyczna ocena sześciomiesięcznego niemowlęcia z zespołem DiGeorge’a

Logopedyczna ocena sześciomiesięcznego niemowlęcia z zespołem DiGeorge’a

Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome

22q11.2 microdeletion syndrome as a multidisciplinary problem

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