Personal profile
Research interests
Long term effects of Thyroxine treatment in young children with Down syndrome on mental and motor development .
Educational placement of children with Down syndrome.
Quality of life in parents of children with Down syndrome.
Mental and motor development of children with Sanfilippo syndrom.
Specialisation
Psychology, Clinical Neuropsychology, Down syndrome, MPS-III, Developmental Disorders
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Collaborations and top research areas from the last five years
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A qualitative study on the impact of hemophilia on sexual functioning and well-being in Dutch men
van Gastel, T. C. M., Teela, L., Lehmann, V., Brands, M. R., Marchal, J. P., Gravendeel, K., Peters, M., Fijnvandraat, K. & Haverman, L., 1 Dec 2025, In: Journal of Patient-Reported Outcomes. 9, 1, 115.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile22 Downloads (Pure) -
Screening for Neurocognitive Deficits in Pediatrics—the Clinical Utility of the Pediatric Perceived Cognitive Functioning item bank
de Vries, M., Marchal, J. P., Maurice-Stam, H., Mulder, B., Grootenhuis, M., Aarsen, F. K., Rietman, A. B., Luijten, M. A. J. & Oostrom, K. J., 1 Dec 2025, In: Archives of clinical neuropsychology. 40, 8, p. 1501-1510 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile27 Downloads (Pure) -
Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings
Naafs, J. C., Marchal, J. P., Fliers, E., Verkerk, P. H., Luijten, M. A. J., Boelen, A., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., 1 Mar 2021, In: Journal of clinical endocrinology and metabolism. 106, 3, p. e1231-e1239Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile23 Downloads (Pure) -
Health-related quality of life in patients with early-detected central congenital hypothyroidism
Naafs, J. C., Marchal, J. P., Verkerk, P. H., Fliers, E., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., 1 Oct 2021, In: Journal of clinical endocrinology and metabolism. 106, 10, p. E4231-E4241Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile24 Downloads (Pure) -
Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
Wijburg, F. A., Heap, F., Rust, S., de Ruijter, J., Tump, E., Marchal, J. P., Nestrasil, I., Shapiro, E., Jones, S. A. & Alexanderian, D., Dec 2021, In: Molecular genetics and metabolism. 134, 4, p. 317-322 6 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access