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Article ; Online: Growth hormone treatment for adults with Prader-Willi syndrome: another point of view.

Hirsch, Harry J / Gross-Tsur, Varda

2021 Volume 16, Issue 1, Page(s) 337

Abstract: Growth hormone treatment for children with Prader Willi syndrome (PWS) has shown proven benefits not only in increasing final height but also with positive effects on body composition and motor development. In a recent letter to the editor, Hoybye and ... ...

Abstract	Growth hormone treatment for children with Prader Willi syndrome (PWS) has shown proven benefits not only in increasing final height but also with positive effects on body composition and motor development. In a recent letter to the editor, Hoybye and colleagues recommend growth hormone treatment for adults with PWS based exclusively on the genetic diagnosis and without regard for growth hormone secretory status. We question whether the benefits of growth hormone treatment in PWS adults, mainly improvement in body composition, are significant enough to justify the as yet unkown consequences of long-term treatment in an adult population. Morbidity and mortality in PWS are mainly due to complications of obesity, and growth hormone treatment does not result in a decrease in BMI or waist circumference. Increases in insulin-like factor-1 as a result of growth hormone treatment over the course of several decades in PWS adults raises concern over possible increase risk of cancer. Compliance with daily injections is likely to be poor. We suggest that efforts to provide appropriate dietary and exercise regimens may be more beneficial and cost-effective than advocating for growth hormone treatment for adults with PWS.
MeSH term(s)	Adult ; Body Composition ; Child ; Human Growth Hormone/therapeutic use ; Humans ; Obesity/drug therapy ; Prader-Willi Syndrome/drug therapy
Chemical Substances	Human Growth Hormone (12629-01-5)
Language	English
Publishing date	2021-08-03
Publishing country	England
Document type	Letter
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-021-01952-9
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Article ; Online: The importance of gynecological examination in adolescent girls and adult women with Prader-Willi syndrome.

Srebnik, Naama / Kalifa, Tal Margaliot / Hirsch, Harry J / Benarroch, Fortu / Eldar-Geva, Talia / Gross-Tsur, Varda

American journal of medical genetics. Part A

2023 Volume 191, Issue 10, Page(s) 2585–2590

Abstract: Current published guidelines for routine care of women with Prader-Willi syndrome (PWS) do not include recommendations for gynecologic examinations. We describe our experience with gynecological examinations in women with PWS and offer recommendations ... ...

Abstract	Current published guidelines for routine care of women with Prader-Willi syndrome (PWS) do not include recommendations for gynecologic examinations. We describe our experience with gynecological examinations in women with PWS and offer recommendations for routine health care for these patients. Data were collected on all 41 PWS females ages ≥12 year, followed in our national Israeli multidisciplinary clinic between the years 2011 and 2022. Menstrual data and findings on external gynecological examination, including evaluation of the vulva and hymen were recorded at yearly visits. During the gynecological evaluation the topic of sexual education was discussed. Pelvic ultrasound, specifically for antral follicular count, was performed for those visiting the clinic during 2020-2022. Blood samples for luteinizing hormone (LH), follicular stimulating hormone (FSH), and estradiol were obtained routinely and DEXA scans for bone density were done when indicated. Of the 41 women, (median age at start of follow-up 17 years, range [12.3-39], BMI 30.4 kg/m
MeSH term(s)	Humans ; Adult ; Female ; Adolescent ; Child ; Young Adult ; Gynecological Examination ; Prader-Willi Syndrome/diagnosis ; Luteinizing Hormone ; Follicle Stimulating Hormone ; Estradiol
Chemical Substances	Luteinizing Hormone (9002-67-9) ; Follicle Stimulating Hormone (9002-68-0) ; Estradiol (4TI98Z838E)
Language	English
Publishing date	2023-07-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63343
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Zs.A 1376/A: Show issues

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Article: Paroxysmal Tonic Upward Gaze at Adolescence: A Girl with Prader-Willi Syndrome.

Gross, Itai / Gross-Tsur, Varda

The Israel Medical Association journal : IMAJ

2016 Volume 18, Issue 11, Page(s) 703–704

Language	English
Publishing date	2016-11
Publishing country	Israel
Document type	Journal Article
ZDB-ID	2008291-5
ISSN	1565-1088 ; 0021-2180
ISSN	1565-1088 ; 0021-2180
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Zs.A 5470: Show issues

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Article ; Online: Re: Brain abnormalities and neurodevelopmental delay in congenital heart disease: systematic review and meta-analysis.

Shen, O / Gross-Tsur, V

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

2014 Volume 44, Issue 1, Page(s) 119

MeSH term(s)	Brain/abnormalities ; Developmental Disabilities/etiology ; Female ; Heart Defects, Congenital/complications ; Humans ; Male ; Neuroimaging
Language	English
Publishing date	2014-07
Publishing country	England
Document type	Comment ; Letter
ZDB-ID	1073183-0
ISSN	1469-0705 ; 0960-7692
ISSN (online)	1469-0705
ISSN	0960-7692
DOI	10.1002/uog.13378
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Zs.A 3214: Show issues

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Article ; Online: The Home Program Evaluation Questionnaire - HoPE-Q - for Infants with Hemiplegic Cerebral Palsy: Development and Psychometric Properties.

Chamudot, Rena / Gross-Tsur, Varda / Horovitz, Roni / Parush, Shula

Physical & occupational therapy in pediatrics

2019 Volume 39, Issue 3, Page(s) 324–336

Abstract: To develop and examine the psychometric properties of the Home Program Evaluation Questionnaire (HoPE-Q), a novel tool designed to assess the effectiveness of home treatment programs for infants with hemiplegia. The HoPE-Q includes a pre- and a ... ...

Abstract	To develop and examine the psychometric properties of the Home Program Evaluation Questionnaire (HoPE-Q), a novel tool designed to assess the effectiveness of home treatment programs for infants with hemiplegia. The HoPE-Q includes a pre- and a postintervention version and items that relate to Child's Function, Parents' Competence, and their Expectations and Satisfaction from the program. The research was performed in three stages. The first stage consisted of item construction and content validity, followed by the analyses of the tool's reliability and construct validity. The final stage involved the examination of the tool's sensitivity to determine its suitability as an outcome measure of the effectiveness of home programs for infants with hemiplegia. Results showed moderate-to-high internal consistency (α = 0.65-0.85) and high test-retest reliability in Child's Function and Parents' Competence (
MeSH term(s)	Cerebral Palsy/rehabilitation ; Child, Preschool ; Female ; Hemiplegia/rehabilitation ; Home Care Services ; Humans ; Infant ; Male ; Program Evaluation ; Psychometrics ; Reproducibility of Results ; Surveys and Questionnaires
Language	English
Publishing date	2019-01-16
Publishing country	England
Document type	Journal Article
ZDB-ID	783998-4
ISSN	1541-3144 ; 0194-2638
ISSN (online)	1541-3144
ISSN	0194-2638
DOI	10.1080/01942638.2018.1534920
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Zs.B 2678: Show issues

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Article ; Online: Brain Lesions as a Predictor of Therapeutic Outcomes of Hand Function in Infants With Unilateral Cerebral Palsy.

Chamudot, Rena / Parush, Shula / Rigbi, Amihai / Gross-Tsur, Varda

Journal of child neurology

2018 Volume 33, Issue 14, Page(s) 918–924

Abstract: Aim: The present study aimed to investigate whether the response variability of infants to modified constraint-induced movement therapy and bimanual therapy are associated with different types of brain lesions.: Method: Infants with unilateral ... ...

Abstract	Aim: The present study aimed to investigate whether the response variability of infants to modified constraint-induced movement therapy and bimanual therapy are associated with different types of brain lesions. Method: Infants with unilateral cerebral palsy (N = 22) ages 8-15 months (mean = 10.95, standard deviation = 2.15 months) were grouped according to having either a periventricular brain lesion or a middle cerebral artery infarct lesion. Improvement in hand function was analyzed based on the mini-Assistive Hand Assessment results. Results: Infants with periventricular brain lesion displayed greater positive response to upper limb treatment compared to those with middle cerebral artery infarct ( P = .02). A significant difference in improvement according to type of treatment was found in the middle cerebral artery infarct group but not in the periventricular brain lesion. Conclusion: The present study showed an association between the type of brain lesion and the efficacy of upper limb treatment in infants. Infants with periventricular brain lesions displayed greater positive responses than those with middle cerebral artery infarct.
MeSH term(s)	Brain Injuries/complications ; Brain Injuries/diagnostic imaging ; Cerebral Palsy/diagnostic imaging ; Cerebral Palsy/etiology ; Cerebral Palsy/rehabilitation ; Female ; Functional Laterality/physiology ; Hand/physiopathology ; Hand Strength/physiology ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Motion Therapy, Continuous Passive/methods ; Reflex/physiology ; Treatment Outcome
Language	English
Publishing date	2018-10-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	639288-x
ISSN	1708-8283 ; 0883-0738
ISSN (online)	1708-8283
ISSN	0883-0738
DOI	10.1177/0883073818801632
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Zs.A 2301: Show issues

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Article ; Online: Epilepsy in Prader-Willi syndrome: experience of a national referral centre.

Gilboa, Tal / Gross-Tsur, Varda

Developmental medicine and child neurology

2013 Volume 55, Issue 9, Page(s) 857–861

Abstract: Aim: The aim of the study was to characterize epilepsy, febrile seizures, electrographic features, and brain abnormalities in a large, national cohort of individuals with Prader-Willi syndrome (PWS).: Method: This was an observational cohort study. ... ...

Abstract	Aim: The aim of the study was to characterize epilepsy, febrile seizures, electrographic features, and brain abnormalities in a large, national cohort of individuals with Prader-Willi syndrome (PWS). Method: This was an observational cohort study. Clinic charts of 126 individuals (63 males, 63 females) with genetically confirmed PWS (due to a deletion in 72 cases, to uniparental disomy [UPD] in 51 cases, and to an imprinting centre defect in two cases), aged from 1 month to 48 years (mean age 13y), were reviewed and 119 interviews conducted. Information regarding seizures, medication, imaging studies, and family history of seizures was collected. Ninety-five individuals (aged 1mo-48y) underwent electroencephalography (EEG). Results: Five individuals had epilepsy (4.0%), three of whom had major cerebral findings on imaging, and eight others had febrile seizures (6.4%). Of the three genetic abnormalities, deletion was associated with seizures. Focal epileptiform abnormalities were found in 12 out of 94 individuals, and five out of these 12 had a frank electrographic seizure pattern. Epileptogenic EEG abnormalities were associated with young age. Interpretation: The risk of epilepsy and febrile seizures in PWS is significantly lower than in Angelman syndrome and is associated with brain abnormalities. Electrographic seizures and focal epileptiform activity were present in 5% of individuals and were associated with young age. The underpinnings of epileptiform abnormalities in PWS and how they differ from those of the Angelman syndrome should be studied further.
MeSH term(s)	Adolescent ; Adult ; Age of Onset ; Angelman Syndrome/complications ; Angelman Syndrome/diagnosis ; Angelman Syndrome/genetics ; Angelman Syndrome/physiopathology ; Child ; Child, Preschool ; Chromosomes, Human, Pair 15 ; Cohort Studies ; Diagnosis, Differential ; Electroencephalography ; Epilepsy/genetics ; Epilepsy/physiopathology ; Female ; Humans ; Infant ; Israel ; Male ; Medical Records ; Middle Aged ; Odds Ratio ; Prader-Willi Syndrome/complications ; Prader-Willi Syndrome/diagnosis ; Prader-Willi Syndrome/genetics ; Prader-Willi Syndrome/physiopathology ; Seizures, Febrile/genetics ; Surveys and Questionnaires ; Ubiquitin-Protein Ligases/genetics
Chemical Substances	UBE3A protein, human (EC 2.3.2.26) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
Language	English
Publishing date	2013-09
Publishing country	England
Document type	Journal Article
ZDB-ID	80369-8
ISSN	1469-8749 ; 0012-1622
ISSN (online)	1469-8749
ISSN	0012-1622
DOI	10.1111/dmcn.12182
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Zs.B 5: Show issues

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Article ; Online: Syndrome-Related Risk Factors for Sexual Abuse: The Example of Prader-Willi Syndrome.

Benarroch, Fortu / Srebnik-Moshe, Naama / Hirsch, Harry J / Genstil, Larry / Derei, Dvorit / Shay, Anna / Gross-Tsur, Varda

Archives of sexual behavior

2021 Volume 50, Issue 5, Page(s) 2259–2266

Abstract: Many genetic disorders associated with intellectual disability are characterized by unique behavioral phenotypes which may have serious psychological consequences such as increasing the risk for sexual abuse (SA). Prader-Willi Syndrome (PWS), a severe ... ...

Abstract	Many genetic disorders associated with intellectual disability are characterized by unique behavioral phenotypes which may have serious psychological consequences such as increasing the risk for sexual abuse (SA). Prader-Willi Syndrome (PWS), a severe neurogenetic syndrome with uncontrollable hyperphagia and high threshold for pain, is an excellent example of this issue. The absence of reports on SA in PWS highlights the lack of awareness to the topic. Our aim was to report on SA in individuals with PWS, describe its unique characteristics, and offer recommendations for its prevention. Caregivers of all individuals with genetically confirmed PWS living in the only two residential facilities designated for PWS in Israel were interviewed for a history of sexual behavior and abuse, and medical data were collected from their files. SA was reported in a quarter of the sample. In most of the cases (78%), food reward was used by the perpetrators to attract their victims. Age at SA ranged from 11 to 29 years. Most of the individuals did not disclose the event and some continued to initiate inappropriate sexual activity to obtain food. Characteristics unique to PWS, such as food-seeking behaviors and high threshold for pain, likely contribute to the risk for SA. These findings suggest that syndrome-specific programs for SA prevention should be considered for individuals with any genetic syndrome with behavioral problems that may increase SA risk.
MeSH term(s)	Adolescent ; Adult ; Child ; Humans ; Hyperphagia ; Prader-Willi Syndrome ; Risk Factors ; Sex Offenses ; Surveys and Questionnaires ; Young Adult
Language	English
Publishing date	2021-06-29
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	184221-3
ISSN	1573-2800 ; 0004-0002
ISSN (online)	1573-2800
ISSN	0004-0002
DOI	10.1007/s10508-021-01934-9
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Article ; Online: Long-term weight control in adults with Prader-Willi syndrome living in residential hostels.

Hirsch, Harry J / Benarroch, Fortu / Genstil, Larry / Pollak, Yehuda / Derei, Dvorit / Forer, Dorit / Mastey Ben-Yehuda, Hadassa / Gross-Tsur, Varda

American journal of medical genetics. Part A

2021 Volume 185, Issue 4, Page(s) 1175–1181

Abstract: Hyperphagia leading to severe obesity with increased morbidity and mortality is the major manifestation of Prader-Willi syndrome. Caring for these individuals in a home environment is challenging and stressful for caregivers and families. Residential ... ...

Abstract	Hyperphagia leading to severe obesity with increased morbidity and mortality is the major manifestation of Prader-Willi syndrome. Caring for these individuals in a home environment is challenging and stressful for caregivers and families. Residential hostels specifically for PWS adults offer programs of diet, exercise, and vocational opportunities, but long-term effects of PWS hostel living have not been reported. We studied long-term changes in body mass index (BMI) for PWS adults living in residential hostels compared with age-matched controls living with families at home. The study included all 34 individuals (18 men) aged >17 years with genetically confirmed PWS living in residential hostels. BMI was recorded at the time of yearly clinic visits and compared to 23 PWS adults (10 men) living at home. BMI on entering the hostel was 36.3 ± 11.0 kg/m
MeSH term(s)	Adolescent ; Adult ; Body Mass Index ; Exercise ; Female ; Humans ; Male ; Middle Aged ; Obesity, Morbid/epidemiology ; Obesity, Morbid/physiopathology ; Obesity, Morbid/therapy ; Prader-Willi Syndrome/epidemiology ; Prader-Willi Syndrome/physiopathology ; Prader-Willi Syndrome/therapy ; Weight Gain/physiology
Language	English
Publishing date	2021-02-04
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62101
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Article ; Online: Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome.

Landau, Daniel / Hirsch, Harry J / Gross-Tsur, Varda

BMC pediatrics

2016 Volume 16, Page(s) 28

Abstract: Background: Prader-Willi syndrome is a complex neurogenetic, multisystem disorder. Despite the variable endocrine abnormalities and hypothalamic-pituitary axis dysfunction, hyponatremia has been reported in only a few PWS patients. In previously ... ...

Abstract	Background: Prader-Willi syndrome is a complex neurogenetic, multisystem disorder. Despite the variable endocrine abnormalities and hypothalamic-pituitary axis dysfunction, hyponatremia has been reported in only a few PWS patients. In previously reported PWS individuals, hyponatremia was associated with abnormal fluid intake or during desmopressin treatment. Case presentation: We describe an infant with Prader-Willi syndrome who had severe, prolonged asymptomatic hyponatremia without a history of excessive fluid intake or desmopressin treatment. We compare the findings with those of the few other reported cases and describe, for the first time, results of a hypertonic saline infusion test and studies of adrenal cortical function. Conclusion: Hyponatremia should be suspected in children with Prader-Willi syndrome, especially in infants with severe failure to thrive. Further studies are needed to determine the pathophysiology of hyponatremia in this syndrome.
MeSH term(s)	Asymptomatic Diseases ; Humans ; Hyponatremia/diagnosis ; Hyponatremia/etiology ; Infant ; Male ; Prader-Willi Syndrome/complications ; Prader-Willi Syndrome/diagnosis
Language	English
Publishing date	2016-02-18
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2041342-7
ISSN	1471-2431 ; 1471-2431
ISSN (online)	1471-2431
ISSN	1471-2431
DOI	10.1186/s12887-016-0563-4
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