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Zhang, D; Kaufmann, WE; Sigafoos, J; Bartl-Pokorny, KD; Krieber, M; Marschik, PB; Einspieler, C.
Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.
J Intellect Dev Disabil. 2017; 42(2):114-122 Doi: 10.3109/13668250.2016.1228858 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Marschik Dajie
Marschik Peter
Co-Autor*innen der Med Uni Graz
Bartl-Pokorny Katrin Daniela
Einspieler Christa
Krieber-Tomantschger Magdalena

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Retrospective parental reports have often been used to identify the early characteristics of children later diagnosed with a developmental disorder. We applied this methodology to document 13 parents' initial concerns about the development of their 17 children later diagnosed with fragile X syndrome (FXS). Parents were additionally asked about when they noticed the emergence of behavioural signs related to FXS. More than half of the parents reported initial concerns prior to the child's first birthday and in most cases it was deviant motor behaviours that caused the first concerns. Behavioural signs related to the FXS phenotype were also reported to be perceptible in the first year of the child's life. Due to limitations of retrospective parental questionnaires, we suggest that other methodologies, such as home video analysis, are needed to complement our understanding of the pathways of developmental disorders with late clinical onsets.
Find related publications in this database (using NLM MeSH Indexing)
Adolescent -
Adult -
Age of Onset -
Child -
Child Behavior Disorders - psychology
Child, Preschool -
Developmental Disabilities -
Female -
Fragile X Syndrome - diagnosis
Fragile X Syndrome - genetics
Humans -
Infant -
Male -
Middle Aged -
Parents - psychology
Retrospective Studies -
Surveys and Questionnaires -

Find related publications in this database (Keywords)
early signs
fragile X syndrome
parental concerns
parental questionnaire
recall bias
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