Cognitive outcome of classic infantile Pompe patients receiving enzyme therapy

Ebbink, BJ; Aarsen, FK; Gelder, C van; Hout, J. van den; Weisglas‐Kuperus, Nynke; Jaeken, Jacques; Lequin, M; Arts, W.F.M.; Ploeg, A. van der

doi:10.1186/1471-2474-14-s2-p14

Cited by 4 publications

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“…The Griffiths Scales is in essence a ‘child‐friendly’ developmental measure, based on the skill and value of observing children, and is playful in nature. It is these attributes that are likely to have rendered it the choice of developmental assessment for children, especially those with clinical diagnoses who are threatened by a formal, rigid testing situation (Ebbink et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

“…In addition, there has been an extensive The GMDS-ER has been translated into Italian, French, Portuguese, Chinese and Russian since its publication in English in 2006. Research studies since 2010 confirm the use of the Griffiths Scales in assessing children in special populations such as HIVexposed or infected children (Lowick, Sawry, & Meyers, 2012;Perez et al, 2015;Springer, Laughton, Tomlinson, Harvey, & Esser, 2012), aboriginal infants (McDonald, Comino, Knight, & Webster, 2012;McDonald, Webster, Knight, & Comino, 2014), measuring the effects of various surgical procedures or noxious environments or treatments (Battaglia et al, 2012;Ebbink, Aarsen, Van Gelder, & Van Den Hout, 2013;Hemels et al, 2012;Laughton et al, 2012;Ostrea et al, 2012;Rahkonen et al, 2012;Van Der Aa et al, 2013;Peroni et al, 2014;Van Dyk, Ramanjam, Church, Koren, & Donald, 2014), genetic groups such as Duchenne muscular dystrophy (Bargagna, Bozza, Purpura, & Luongo, 2012;Colombo et al, 2014;Chieffo et al, 2015;Pane et al, 2012Pane et al, , 2013 and multiple births (Tsekoura, Beli, Boutopoulou, & Orfanidou, 2012).…”

Section: Introductionmentioning

confidence: 99%

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Child development assessment: Practitioner input in the revision for Griffiths III

Green

Stroud

Marx

et al. 2020

Child

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Introduction: The input from practitioners in developmental assessment test revision is a crucial and leading component of the project. This paper highlights six key phases of the Griffiths III revision process and the value of having a guiding plan that includes test practitioner input. Methods: The revision of the Griffiths III consisted of six separate phases that were supported by practitioner and user input and feedback. These six phases and practitioner views ensured that the necessary core constructs and new areas for item development were included in the revised version. These processes also underscored the construct development and task review, item design, piloting and standardization of the revised version, as well as its production, release and subsequent training methods. Results: The six guiding phases provided a methodologically robust frame to the revision process. Practitioners valued an overall developmental measure with discrete data about and within the 'avenues of learning' allowing them to analyse a child's strengths and weaknesses. Communication with practitioners across the world demonstrated the wide disparity of culture and environments that the Griffiths Scales are deployed in. It is not possible to design a revised scale that is appropriate for all areas of use, so in this revision process, it was decided to design the scales as culturally fair as possible and support practitioners in other countries to translate and validate the scales for use. Conclusions: The revision of the Griffiths III found test users to be valuable sources of information on the basis of their experiences with the test and professional knowledge. Creating a continuous feedback mechanism within a phased process provided opportunities for the revision team to engage meaningfully with the data being obtained as well as test users to advance the scope and quality of the test. Revision teams are encouraged to consider the process and engagement methods explored in this study during their projects.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Child development assessment: Practitioner input in the revision for Griffiths III

Green

Stroud

Marx

et al. 2020

Child

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The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

et al. 2017

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BackgroundHumanistic burden considers the impact of an illness on a patient’s health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular disease. Approval of enzyme-replacement therapy (ERT) markedly improved prognosis for patients, but considerable morbidity and a substantial humanistic burden remain. This article characterizes the humanistic burden of Pompe disease through a systematic literature review.MethodsA systematic search of MEDLINE® and Embase® with back-referencing and supplementary literature searches was performed to retrieve data from interventional and non-interventional studies on the humanistic burden of Pompe disease. Publications were screened according to predefined criteria, extracted, and assessed for quality. Extracted data were narratively synthesized.ResultsNo publications on the humanistic burden of infantile-onset Pompe disease (IOPD) were identified. As such, of 17 publications included here, all are in patients with late-onset Pompe disease (LOPD). Thirteen publications were initiated after approval of ERT, two were initiated before, and two overlapped the approval of ERT. The review shows that LOPD patients have a significantly lower HRQoL than the general population, even if treated with ERT. On transitioning to ERT, treatment was associated with improvement in the physical component score of the SF-36 and fatigue, although the SF-36 mental component score remained stable. Physical HRQoL remained below population norms after 4 years of ERT. Significantly more ERT-treated patients reported pain than controls, and bodily pain worsened in later years following ERT initiation. Treatment-naïve LOPD patients had significantly poorer ADL functioning compared with the general population, although ERT stabilized deteriorating functioning impairment. ERT studies showed caregivers provide 17.7 h/week informal care on average. Fifty percent, 40% and <20% of caregivers reported mental health, physical health, and financial/relational problems, respectively. In ERT-naïve patients, wheelchair use and home ventilatory support was associated with lower physical HRQoL and ADL functioning. In ERT-treated patients, key factors predicting worse HRQoL and ADL functioning were higher respiratory distress, poorer sleep quality, greater pain, and more fatigue.ConclusionsPompe disease has a substantial humanistic burden, with strong inter-relationships among and between humanistic burden parameters and clinical progression.

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Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy

Hsueh

Huang

Yang

et al. 2021

Orphanet J Rare Dis

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Background Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-term survivors. However, the benefits of early ERT for hearing outcomes have not yet been reported. This study aimed to investigate the impact of early ERT on IOPD patients. Methods This retrospective longitudinal study recruited IOPD patients who were referred by newborn screening for confirmatory diagnosis based on our rapid diagnostic criteria and received early ERT treatment between January 1, 2010, and January 31, 2018. The hearing test battery included a tympanogram, otoacoustic emission, auditory brainstem evoked response (ABR), pure-tone audiometry or conditioned play audiometry. Results Nineteen patients with IOPD were identified, 6 of whom had hearing impairment (HI); 1 had conductive HI, 2 had sensorineural HI (one had bilateral mild HI and one had mild HI in a single ear) and 1 had moderate mixed-type HI. Two patients failed the newborn screening test and had mild HI in the ABR. The mean age of the initial time to ERT was 11.05 ± 4.31 days, and the HI rate was 31.6% (6/19). Conclusion Our study is the largest cohort to show the characteristic hearing outcomes of IOPD patients after ERT. Early ERT within 2 weeks after birth may contribute to better hearing outcomes. Clinicians should be vigilant in testing for the hearing issues associated with IOPD and should intervene early if any HI is detected.

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Cognitive outcome of classic infantile Pompe patients receiving enzyme therapy

Cited by 4 publications

References 0 publications

Child development assessment: Practitioner input in the revision for Griffiths III

Child development assessment: Practitioner input in the revision for Griffiths III

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy

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