Reference values for height and weight in Prader-Willi syndrome based on 315 patients

Abstract

Reference data on spontaneous development of growth and weight gain of children with Prader-Willi syndrome are described allowing a better counselling of patients and parents.

Prader‐Willi syndrome: is there a recognizable fetal phenotype?

“…Growth is also an interesting parameter when fetal measurements show a low abdominal circumference but normal occipital frontal circumference and femoral length (Hiroi et al, 2000;Fong and De Vries, 2003). This growth pattern is also found after birth in European PWS neonates who have a low average weight (2945 ± 570 g in boys and 2782 ± 594 g in girls), contrasting with normal average length (50.2 ± 2.8 cm in boys and 48.9 ± 3.3 cm in girls) (Wollmann et al, 1998). Similar neonatal growth values have been reported for Japanese patients with PWS (Nagai et al, 2000).…”

Growth failure and outcome in Rett syndrome

“…Disease-specific standards screen for disease [2][3][4][5][6][7][8][9][10][11][12][13] and measure the effect of therapeutic interventions designed to improve nutrition and neurologic function.…”

“…Many comorbid disorders have an impact on growth in RTT, such as oropharyngeal and gastrointestinal dysfunction, scoliosis, seizures, and osteopenia. The pattern of growth in female patients with RTT trends well below the lowest centile on standard growth references, 1 which fail to differentiate a normal RTT growth pattern from one caused by malnutrition or illness.Disease-specific standards screen for disease [2][3][4][5][6][7][8][9][10][11][12][13] and measure the effect of therapeutic interventions designed to improve nutrition and neurologic function.14,15 With more than 200 mutation sites identified in the methyl-CpG-binding protein 2 gene (MECP2), the clinical severity in RTT varies widely. 16 Associations exist among specific mutations and functional outcomes such as ambulation, hand use, and language.…”

Prader-Willi syndrome: new possibilities for its treatment in the children

“…При рождении показатели роста у пациентов соответствуют норме или несколько ниже средних значений (-0,23 SDS у мальчиков и -0,53 SDS у де-вочек) [11,12]. В дальнейшем может отмечаться снижение темпов роста, которое особенно заметно в препубертатном и пубертатном периоде за счет низ-кого ростового скачка.…”

“…Средний конечный рост взрос-лых пациентов с СПВ ниже среднепопуляционного на 2 SD [9,11,12] и составляет 159,0±5,3 см для мужчин и 148±5,5 см для женщин [13]. Перцентиль-ные кривые роста здоровых и больных СПВ маль-чиков и девочек представлены на рис.…”