Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Butler, Merlin G.; Sturich, Jennifer; Myers, Susan E.; Gold, June‐Anne; Kimonis, Virginia; Driscoll, Daniel J.

doi:10.1007/s10815-009-9341-7

Cited by 50 publications

(54 citation statements)

References 26 publications

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“…In our study the mean birth weights and BMIs of PWS probands was about 15% and 20% less, respectively, than their siblings. Similar reduced birth weights in infants with PWS have also been reported by our group and others [Butler et al, 2009, 2010]. …”

Section: Discussionsupporting

confidence: 91%

Nutritional phases in Prader–Willi syndrome

Miller

Lynn

Driscoll

et al. 2011

American J of Med Genetics Pt A

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366

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Prader–Willi syndrome (PWS) is a complex neurobehavioral condition which has been classically described as having two nutritional stages: poor feeding, frequently with failure to thrive (FTT) in infancy (Stage 1), followed by hyperphagia leading to obesity in later childhood (Stage 2). We have longitudinally followed the feeding behaviors of individuals with PWS and found a much more gradual and complex progression of the nutritional phases than the traditional two stages described in the literature. Therefore, this study characterizes the growth, metabolic, and laboratory changes associated with the various nutritional phases of PWS in a large cohort of subjects. We have identified a total of seven different nutritional phases, with five main phases and sub-phases in phases 1 and 2. Phase 0 occurs in utero, with decreased fetal movements and growth restriction compared to unaffected siblings. In phase 1 the infant is hypotonic and not obese, with sub-phase 1a characterized by difficulty feeding with or without FTT (ages birth—15 months; median age at completion: 9 months). This phase is followed by sub-phase 1b when the infant grows steadily along a growth curve and weight is increasing at a normal rate (median age of onset: 9 months; age quartiles 5–15 months). Phase 2 is associated with weight gain—in sub-phase 2a the weight increases without a significant change in appetite or caloric intake (median age of onset 2.08 years; age quartiles 20–31 months;), while in sub-phase 2b the weight gain is associated with a concomitant increased interest in food (median age of onset: 4.5 years; quartiles 3–5.25 years). Phase 3 is characterized by hyperphagia, typically accompanied by food-seeking and lack of satiety (median age of onset: 8 years; quartiles 5–13 years). Some adults progress to phase 4 which is when an individual who was previously in phase 3 no longer has an insatiable appetite and is able to feel full. Therefore, the progression of the nutritional phases in PWS is much more complex than previously recognized. Awareness of the various phases will aid researchers in unraveling the pathophysiology of each phase and provide a foundation for developing rational therapies. Counseling parents of newly diagnosed infants with PWS as to what to expect with regard to these nutritional phases may help prevent or slow the early-onset of obesity in this syndrome.

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Section: Discussionsupporting

confidence: 91%

Nutritional phases in Prader–Willi syndrome

Miller

Lynn

Driscoll

et al. 2011

American J of Med Genetics Pt A

Self Cite

366

373

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“…[1][2][3] Prenatal hypotonia usually results in decreased fetal movement, abnormal fetal position at delivery, and increased incidence of assisted delivery or cesarean section. 1 …”

Section: Manifestations and Natural History Prenatal Characteristicsmentioning

confidence: 99%

“…Postterm delivery is more common with UPD. 1 Individuals with UPD are less likely to have the hypopigmentation, 115,124 typical characteristic facial appearance, 115,116 or skill with jigsaw puzzles. 125 In most studies, those with UPD have a somewhat higher verbal IQ and milder behavior problems.…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

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“…The features not typical of PWS in this patient were lowerthan-average birth weight for PWS. 22 Case 6 PW231P. MS-MLPA revealed a deletion from MKRN3 to APBA2.…”

Section: Centromere To Gabrg3mentioning

confidence: 99%

Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

et al. 2011

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Prader-Willi syndrome (PWS) is a multisystem, contiguous gene disorder caused by an absence of paternally expressed genes within the 15q11.2-q13 region via one of the three main genetic mechanisms: deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. The deletion class is typically subdivided into Type 1 and Type 2 based on their proximal breakpoints (BP1-BP3 and BP2-BP3, respectively). Despite PWS being a well-characterized genetic disorder the role of the specific genes contributing to various aspects of the phenotype are not well understood. Methylationspecific multiplex ligation-dependent probe amplification (MS-MLPA) is a recently developed technique that detects copy number changes and aberrant DNA methylation. In this study, we initially applied MS-MLPA to elucidate the deletion subtypes of 88 subjects. In our cohort, 32 had a Type 1 and 49 had a Type 2 deletion. The remaining seven subjects had unique or atypical deletions that were either smaller (n¼5) or larger (n¼2) than typically described and were further characterized by array-based comparative genome hybridization. In two subjects both the PWS region (15q11.2) and the newly described 15q13.3 microdeletion syndrome region were deleted. The subjects with a unique or an atypical deletion revealed distinct phenotypic features. In conclusion, unique or atypical deletions were found in B8% of the deletion subjects with PWS in our cohort. These novel deletions provide further insight into the potential role of several of the genes within the 15q11.2 and the 15q13.3 regions.

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Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Cited by 50 publications

References 26 publications

Nutritional phases in Prader–Willi syndrome

Nutritional phases in Prader–Willi syndrome

Prader-Willi syndrome

Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

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