hrp0095p1-310 | Growth and Syndromes | ESPE2022

The Prader-Willi phenotype and atypical 15q11.2-q13 deletions

Grootjen Lionne , Juriaans Alicia , Kerkhof Gerthe , Hokken-Koelega Anita

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15. Either a paternal deletion of the PWS region (50%), a maternal uniparental disomy (mUPD; 43%), an imprinting defect (4.1%) or translocation (<1%) can lead to PWS. Deletions are almost always de novo and manifest either as a large type I or a smaller type II deletion. In more rar...

hrp0095p1-299 | GH and IGFs | ESPE2022

Three years of growth hormone (GH) treatment in young adults with PWS previously treated with GH during childhood: Effects on cognitive functioning

Trueba - Timmermans Demi , Mahabier Eva , Grootjen Lionne , Juriaans Alicia , Hokken - Koelega Anita

Introduction: Most patients with Prader-Willi syndrome (PWS) have a mild to moderate cognitive impairment. Growth hormone (GH) treatment has positive short- and long-term effects on cognition in children with PWS. Few studies, however, have investigated the effects of GH on cognitive functioning in adults with PWS.Objective: To investigate the effects of 3 years GH treatment on cognitive functioning in young adults with ...

hrp0092p3-178 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Long-Term Effect of Growth Hormone Treatment on the Onset and Progression of Scoliosis in Children with Prader-Willi Syndrome

Grootjen Lionne , Donze Stephany , Damen Layla , Rutges Joost , Hokken-Koelega Anita

Context: Most children with Prader-Willi syndrome (PWS) develop scoliosis. Scoliosis has a prevalence of 80% in children with PWS older than 10 years, who were not treated with growth hormone (GH). GH is an approved treatment for children with PWS and improves psychomotor development and body composition. The onset and progression of scoliosis are generally associated with an accelerated growth velocity and GH treatment might cause accelerated growth. Sinc...

hrp0094p1-165 | Growth B | ESPE2021

Effects of age of start growth hormone treatment in children with Prader-Willi syndrome: The earlier the better?

Grootjen Lionne , Timmermans Demi , Damen Layla , Kerkhof Gerthe , Hokken-Koelega Anita ,

Context: Clinical findings characterizing PWS are muscular hypotonia, abnormal body composition, developmental delay, behavioral problems, hyperphagia with obesity when food intake is not restricted and short stature. Endocrine problems are described, like hypogonadism, hypothyroidism and adrenal insufficiency and growth hormone (GH) deficiency. Hypothalamic dysfunction may be responsible for many features of PWS. Randomized controlled studies showed that GH t...

hrp0094p1-129 | Growth A | ESPE2021

Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome

Ciancia Silvia , Goedegebuure Wesley J. , Grootjen Lionne N. , Hokken-Koelega Anita C.S. , Kerkhof Gerthe F. , van der Kaay Danielle C. ,

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...