Behavioural aspects of Gaucher's disease - An explorative study

Lauren McPartlan, Ruksana Ahmed, Ashok Vellodi, Paramala Santosh

    Research output: Contribution to journalMeeting abstractpeer-review


    Molecular Genetics and Metabolism Volume 102, Issue 2, February 2011, Pages S28–S29 Cover image Behavioural aspects of Gaucher's disease – An explorative study Lauren McPartlana, Ruksana Ahmeda, Ashok Vellodia, b, Paramala Santosha a Great Ormond Street Hospital, London, Greater London, U.K. b Institute of Child Health, U.K. Available online 15 January 2011 Show less Get rights and content Introduction: The management of Gaucher Disease has been revolutionized by enzyme replacement therapy. Consequently, life expectancy has increased. As a result, other features of GD are being ‘uncovered’ and attention is now turning to the neurobehavioural problems. This study aimed to assess the behavioural symptoms displayed by children with GD3. Description/cases/results: The study was a postal and internet-based survey of a group of 7 children with GD3. The subjects were recruited from the Metabolic Clinic at Great Ormond Street Hospital. The parents of the participants completed the Profile of Neuropsychiatric Symptoms questionnaire (PONS) and the parental stress index (PSI).The GD3 patients PONS data showed that compared to the general child population, 71.4% of the patients had difficulties with learning and clumsiness, 42.9% had difficulties arising from sensory symptoms, low mood, manic episodes and oppositional and defiant behaviour and 28.6% had difficulties due to hyperactivity, impulsivity, aggression, poor language, circumscribed interests, self-injury, poor empathy, obsessions & compulsions, depressive thoughts, worries, fears and poor memory.The PSI highlighted that 50% of GD3 parent's show levels of distress that warrant professional attention. Conclusion/Discussion: These preliminary findings indicate that patients with GD3 do present with behavioural and emotional difficulties. The clinical implications for social functioning, and, crucially, for education, are profound. Larger cohorts need to be studied both in order to corroborate these findings as well as to develop a more detailed behavioural phenotype of GD subtypes. Through a more comprehensive understanding of patients’ psychosocial and psychopharmacological needs, appropriate interventions can be designed.
    Original languageEnglish
    Pages (from-to)S28-S29
    Number of pages2
    Issue number2
    Publication statusPublished - Feb 2011
    Event7th Annual World Symposium of the Lysosomal-Disease-Network - Las Vegas, United Kingdom
    Duration: 16 Feb 201118 Feb 2011


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