Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome

Lecka-Ambroziak, Agnieszka; Wysocka‐Mincewicz, Marta; Doleżal-Ołtarzewska, Katarzyna; Zygmunt-Górska, Agata; Żak, Teresa; Noczyńska, Anna; Birkholz-Walerzak, Dorota; Stawerska, Renata; Hilczer, Maciej; Obara-Moszynska, Monika; Rabska-Pietrzak, Barbara; Gołębiowska, Elżbieta; Dudek, Adam; Petriczko, Elżbieta; Szalecki, Mieczysław

doi:10.3390/diagnostics11050798

Cited by 6 publications

(9 citation statements)

References 45 publications

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“…Notably, birth weight SDS was significantly lower in PWS, while head circumference SDS at birth was not affected. The higher prevalence of SGA birth in the mUPD group has not been reported earlier, although one study found a tendency towards a lower birth weight SDS in the mUPD group [22]. In an Italian cohort of PWS newborns, no difference in birth weight was found between genotypes, but females with a deletion had a smaller birth length compared to the mUPD subtype [20], but we could not confirm this.…”

Section: Discussioncontrasting

confidence: 88%

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Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome

Grootjen

Uyl²,

Beijsterveldt

et al. 2022

JCM

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Objective: Prader-Willi syndrome (PWS) is a rare genetic syndrome with a wide spectrum of clinical features in early life. Late diagnoses are still present. We characterized the perinatal and neonatal features of PWS, compared them with those of healthy newborns and assessed the prenatal and neonatal differences between the genetic subtypes. Design: A cohort study in children with PWS. The prevalence of variables was compared with healthy infants (PLUTO cohort) and to population statistics from literature. Patients: 244 infants with PWS and 365 healthy infants. Measurements: Data on prenatal and neonatal variables in both cohorts. Population statistics were collected through an extensive literature search. Results: A higher prevalence of maternal age >35 years was found in PWS compared to healthy infants and population statistics, and the highest maternal age was found in the mUPD group. Higher prevalence of polyhydramnios, caesarean section, labour induction and breech presentation, and lower birth weight SDS was found in PWS compared to healthy infants. High prevalences of decreased fetal movements (78.5%), hypotonia (100%), cryptorchism (95.9%) and poor sucking/tube feeding (93.9%) were found in PWS. Conclusions: This study presents an overview of prenatal and neonatal variables in infants with PWS compared to healthy infants. Our findings may increase clinical awareness of the early perinatal signs of PWS by obstetricians, neonatologists and all those involved in infant care, enabling early diagnosis and start of multidisciplinary treatment.

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Section: Discussioncontrasting

confidence: 88%

“…Although perinatal and neonatal characteristics in PWS have been reported [6,[18][19][20][21][22], the spectrum of clinical features which characterizes PWS in early life is still relatively unclear or inappropriate molecular testing was performed [21]. In addition, a comparison with healthy infants is, to our knowledge, not yet described.…”

Section: Introductionmentioning

confidence: 97%

Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome

Grootjen

Uyl²,

Beijsterveldt

et al. 2022

JCM

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“…Analysis of the genetic background of the study population confirmed our previous research conclusions that a UPD/ID genetic background seems to be recognised later in life and therefore these patients start rhGH therapy at an older age [ 35 ]. Moreover, as expected, the earliest genetic diagnosis leads to the earliest rhGH commencement.…”

Section: Discussionsupporting

confidence: 77%

“…The rhGH treatment was accepted by the Polish Coordination Group for rhGH Treatment. We recently published the first part of the data analysis regarding perinatal characteristics, anthropometric data and biochemical data before commencement of rhGH treatment in relation to the genetic subtype and the age of genetic diagnosis [ 35 ].…”

Section: Methodsmentioning

confidence: 99%

“…The abnormality in the methylation pattern of SNRPN , diagnostic for PWS, was confirmed in 36 patients (24.49%), with the exact type of genetic diagnosis pending; in 1 patient the genetic report was not included in the available medical files. In previous research, cited above, regarding the correlation of genotype and perinatal period, time of diagnosis and data before rhGH start in our group of patients, we discussed the lack of specific molecular diagnosis in part of the cohort, as well as in other published data of large groups of patients with PWS, and the need for improvement in this field [ 35 ].…”

Section: Methodsmentioning

confidence: 99%

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Effects of Recombinant Human Growth Hormone Treatment, Depending on the Therapy Start in Different Nutritional Phases in Paediatric Patients with Prader–Willi Syndrome: A Polish Multicentre Study

Lecka-Ambroziak

Wysocka‐Mincewicz

Doleżal-Ołtarzewska

et al. 2021

JCM

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Recombinant human growth hormone (rhGH) treatment is an established management in patients with Prader–Willi syndrome (PWS), with growth promotion and improvement in body composition and possibly the metabolic state. We compared anthropometric characteristics, insulin-like growth factor 1 (IGF1) levels, metabolic parameters and the bone age/chronological age index (BA/CA) in 147 children with PWS, divided according to age of rhGH start into four groups, corresponding to nutritional phases in PWS. We analysed four time points: baseline, rhGH1 (1.21 ± 0.81 years), rhGH2 (3.77 ± 2.17 years) and rhGH3 (6.50 ± 2.92 years). There were no major differences regarding height SDS between the groups, with a higher growth velocity (GV) (p = 0.00) and lower body mass index (BMI) SDS (p < 0.05) between the first and older groups during almost the whole follow-up. IGF1 SDS values were lower in group 1 vs. other groups at rhGH1 and vs. groups 2 and 3 at rhGH2 (p < 0.05). Glucose metabolism parameters were favourable in groups 1 and 2, and the lipid profile was comparable in all groups. BA/CA was similar between the older groups. rhGH therapy was most effective in the youngest patients, before the nutritional phase of increased appetite. We did not observe worsening of metabolic parameters or BA/CA advancement in older patients during a comparable time of rhGH therapy.

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Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

Madeo,

Zagaroli,

Vandelli

et al. 2024

Front. Endocrinol.

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Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability. Differences in physical and behavioral characteristics between patients with PWS due to deletion versus those with maternal disomy are discussed in literature. Patients with maternal disomy tend to have more frequent neurodevelopmental problems, such as autistic traits and behavioral issues, and generally have higher IQ levels compared to those with deletion of the critical PWS region. This has led us to review the pertinent literature to investigate the possibility of establishing connections between the genetic abnormalities and the endocrine disorders experienced by PWS patients, in order to develop more targeted diagnostic and treatment protocols. In this review, we will review the current state of clinical studies focusing on endocrine disorders in individuals with PWS patients, with a specific focus on the various genetic causes. We will look at topics such as neonatal anthropometry, thyroid issues, adrenal problems, hypogonadism, bone metabolism abnormalities, metabolic syndrome resulting from severe obesity caused by hyperphagia, deficiencies in the GH/IGF-1 axis, and the corresponding responses to treatment.

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Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome

Cited by 6 publications

References 45 publications

Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome

Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome

Effects of Recombinant Human Growth Hormone Treatment, Depending on the Therapy Start in Different Nutritional Phases in Paediatric Patients with Prader–Willi Syndrome: A Polish Multicentre Study

Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

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