Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome

Grootjen, Lionne N.; Uyl, Nathalie E. M.; Beijsterveldt, Inge A.L.P. van; Damen, Layla; Kerkhof, Gerthe F.; Hokken-Koelega, Anita C S

doi:10.3390/jcm11030679

Cited by 12 publications

(17 citation statements)

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“…These results are consistent with those of previous reports from other countries. [9][10][11][12] Our study showed that patients with UPD had a higher maternal age than patients with deletions. Maternal UPD is mainly caused by trisomy rescue and gamete complementation.…”

Section: Discussionmentioning

confidence: 50%

“…Although the clinical characteristics of perinatal and neonatal patients with PWS have been reported, [9][10][11][12] there are no reports on the clinical characteristics of perinatal and neonatal patients with PWS in Japan. Therefore, this study aimed to evaluate these clinical characteristics in patients with PWS in Japan and to compare the findings of the two most common genetic subtypes: deletion and UPD.…”

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confidence: 99%

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Perinatal and neonatal characteristics of Prader–Willi syndrome in Japan

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Murakami

Imatani

et al. 2023

Pediatrics International

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BackgroundPrader–Willi syndrome (PWS) is suspected at birth if extreme hypotonia, difficulty in feeding, hypogonadism, and failure to thrive are present. Genetic diagnosis of PWS can generally be made within the first few months of life; however, a delayed diagnosis of PWS is frequently reported. Although the clinical characteristics of perinatal and neonatal patients with PWS have been reported, there are no such reports on the clinical characteristics of these patients in Japan.MethodsThis retrospective, single‐center study involved 177 Japanese patients with PWS and their medical data regarding the perinatal and neonatal periods were evaluated.ResultsThe median maternal age at birth was 34 years; 12.7% of the mothers had a history of assisted reproductive technology (ART). Of the mothers, 13.5% reported polyhydramnios and 4.3% had oligohydramnios. Decreased fetal movement during pregnancy was reported by 76% of the mothers. A total of 60.5% of patients were born by cesarean section. Genetic subtypes included deletions (66.1%), uniparental disomy (31.0%), imprinting defects (0.6%), and other or unknown subtypes (2.3%). The median birth length was 47.5 cm and the median birthweight was 2476 g. Of the 160 patients, 14 (8.8%) were classified as small for gestational age. Most patients had hypotonia (98.8%), and 89.3% required gavage feeding at birth. Breathing problems, congenital heart disease, and undescended testis were noted in 33.1%, 7.0%, and 93.5% of patients, respectively.ConclusionIn our study, higher rates of ART, polyhydramnios, decreased fetal movements, cesarean section, hypotonia, feeding difficulties, and undescended testis were observed in PWS.

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Section: Discussionmentioning

confidence: 50%

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confidence: 99%

Perinatal and neonatal characteristics of Prader–Willi syndrome in Japan

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Murakami

Imatani

et al. 2023

Pediatrics International

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“…Many patients in our group had a Prader–Willi-like phenotype (i.e., hypotonia, hyperphagia, overweight/obesity), but not all. The neonatal phenotype of TS14 was quite similar to that of PWS, but our patients with TS14 had a lower birth weight than is generally seen in patients with PWS [ 39 ]. The body composition profile of patients with TS14 with a high FM% and low LBM is more similar to that of patients with PWS [ 30 ] than to that of those with SRS [ 40 ].…”

Section: Discussionmentioning

confidence: 88%

“…However, our patients had a normal to high FM%, which is very rare in young children with SRS [ 40 ]. Unlike in PWS and SRS, a large number of patients did not require tube feeding after birth (47%) and those with tube feeding required it for days instead of several weeks to months as in PWS [ 39 ] or even years as can occur in SRS [ 11 ]. Other distinctive characteristics of TS14, such as precocious puberty, a disharmonic intelligence profile and specific behaviors, are uncommon or completely lacking in PWS and SRS.…”

Section: Discussionmentioning

confidence: 99%

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

Juriaans

Kerkhof

Mahabier

et al. 2022

JCM

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Background: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often experience delay in diagnosis, which has adverse effects on their health. TS14 is often characterized as either Prader–Willi-like, Silver–Russell-like or as a Silver–Russell spectrum disorder. Methods: This study describes 15 patients with TS14 who visited the Dutch Reference Center for Prader–Willi-like from December 2018 to January 2022. Results: Eight patients had UPD(14)mat and seven a methylation defect. The most common symptoms were intra-uterine growth retardation (IUGR) (100%), hypotonia (100%), precocious puberty (89%), small for gestational age (SGA) birth (67%), tube feeding after birth (53%) and psycho-behavioral problems (53%). Median (interquartile range (IQR)) IQ was 91.5 (84.25; 100.0), whilst many patients were enrolled in special education (54%). The median (IQR) fat mass % (FM%) SDS was 2.53 (2.26; 2.90) and lean body mass (LBM) SDS −2.03 (−3.22; −1.28). There were no significant differences in clinical characteristics between patients with a UPD(14)mat and a methylation defect. Conclusions: Our patients share a distinct phenotype consisting of IUGR, SGA birth, precocious puberty, hypotonia, tube feeding after birth, psycho-behavioral problems and abnormal body composition with a high FM% and low LBM. Whilst similarities with Prader–Willi syndrome (PWS) and Silver–Russell syndrome (SRS) exist, TS14 is a discernible syndrome, deserving a tailored clinical approach. Testing for TS14 should be considered in patients with a PWS or SRS phenotype in infancy if PWS/SRS testing is negative.

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“…PWS results from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15 [ 1 , 2 , 4 ] due to a paternal deletion of the PWS region (50–75%), a maternal uniparental disomy (mUPD; 20–44%), an imprinting defect (<5%) or translocation (<1%) [ 5 , 6 , 7 , 8 ]. Most cases (>99%) can be easily detected using DNA methylation analysis to detect deletions or abnormal methylation of the PWS region [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype

Grootjen

Juriaans

Kerkhof

et al. 2022

JCM

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Background: 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, as a result of a type I or II paternal deletion (50%), maternal uniparental disomy (43%), imprinting defect (4%) or translocation (<1%). In very rare cases, atypical deletions, smaller or larger than the typical deletion, are identified. These patients may have distinct phenotypical features and provide further information regarding the genotype–phenotype correlation in PWS. Methods: A prospective study in eight patients (six males and two females) with an atypical deletion in the PWS region accompanies an overview of reported cases. Results: All patients had hypotonia (100%) and many had typical PWS facial characteristics (75%), social and emotional developmental delays (75%), intellectual disabilities (50%), neonatal feeding problems and tube feeding (63%), history of obesity (50%), hyperphagia (50%) and scoliosis (50%). All males had cryptorchidism. Two patients had two separate deletions in the PWS critical region. Conclusions: Our findings provide further insight into PWS genotype–phenotype correlations; our results imply that inclusion of both SNURF-SNPRN and SNORD-116 genes in the deletion leads to a more complete PWS phenotype. A larger deletion, extending further upstream and downstream from these genes, does not cause a more severe phenotype. Conventional PWS methylation testing may miss small deletions, which can be identified using targeted next generation sequencing. PWS’s phenotypic diversity might be caused by differentially methylated regions outside the 15q11.2 locus.

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Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome

Cited by 12 publications

References 50 publications

Perinatal and neonatal characteristics of Prader–Willi syndrome in Japan

Perinatal and neonatal characteristics of Prader–Willi syndrome in Japan

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype

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