Satyakam MOHAPATRA*, Udit Kumar PANDA

?Case report?

Behavioral and emotional manifestations in a child with Prader-Willi syndrome

Satyakam MOHAPATRA*, Udit Kumar PANDA

Prader-Willi Syndrome; psychiatric symptoms; childhood disorders; case report; India

1. Introduction

Prader-Willi syndrome (PWS) is a genetically determined neurodevelopmental disorder with a prevalence of 3 to 7 individuals per 100,000 births.[1]It is usually the result of a paternally transmitted deletion at chromosome 15-q11-q13. Characterized by mental retardation and distinct physical, behavioral, and psychiatric features, individuals with PWS are typically short and obese, have small hands and feet, and have other dysmorphic features including a narrow bifrontal diameter, full cheeks, and almond-shaped eyes.[2]They have borderline to moderate mental retardation, have impaired speech and language,[3]and exhibit more behavioral disturbances than individuals with other intellectual disabilities,[4]including excessive interest in food, skin picking, difficulty with changes in routine,temper tantrums, obsessive and compulsive behaviors,and mood fl uctuations.[5,6]The severity of the behavioral problems increases with age and body mass index,[7]and then diminishes in older adults.[9]Recent evidence suggests that autism spectrum disorders (ASD) may be common in individuals with PWS.[9]Psychosis occurs during young adulthood in 5-10% of individuals with the syndrome.[10]The cognitive impairment, limited speech and language skills, and behavioral abnormalities seriously affect the early development and long-term functioning of individuals with PWS. Psychiatric and behavioral problems are the most common cause of hospitalization.

2. Case history

A 9-year-old girl was brought to our hospital with complaints of irritability, stubbornness, emotional lability, temper tantrums, and increased speech. Her father also reported hyperactivity, a history of overeating and stealing food, and sudden mood changes including outbursts of laughter and crying without any obvious reason. She had had an unevenるul birth history and no family history of neurological or psychiatric illness, but she had delayed development of gross motor functions and language skills. Her academic performance in primary school was poor.

Physical examination revealed an obese female(weight 54 kg, height 112 cm, body mass index 43.1)with small hands and feet, a narrow nasal bridge, and almond-shaped palpebral fissures. The skin on her face, hands, and arms had many excoriated papules from repetitive skin picking. Her speech had imprecise articulation and hypernasality. Her neurological examination, routine blood tests, thyroid function tests,liver function tests, and computed tomography (CT) of the brain were all within normal limits. Ultrasonography of her abdomen and pelvis revealed a fatty liver and a hypoplastic uterus.

Intelligence testing indicated that her IQ was 40. After consultation with an endocrinologist, she was diagnosed with Prader-Willi syndrome. Her management included hormonal therapy and dietary advice directed by the endocrinology department, skin treatment directed by the dermatology department,and speech therapy. She was also given risperidone 1 mg/d for behavioral control. Her family was educated about the illness. After 8 weeks of this multi-phased intervention, her irritability, stubbornness, temper tantrums, increased speech, and self- injurious behavior improved significantly. She tolerated the risperidone well without any significant adverse reaction. After 4 months of treatment the dose of risperidone was reduced to 0.5 mg per day.

3. Discussion

In the past the Prader-Willi syndrome was diagnosed based on the clinical presentation, but genetic testing can now more accurately diagnose the condition. In high-income countries, genetic testing is recommended for all infants with pronounced hypotonia; however, in most low- and middle-income countries genetic testing is not available, so the diagnosis still depends on the correct identification of the typical clinical symptoms.Given the relative rarity of the disorder and the unfamiliarity of most clinicians with the condition, many cases go undiagnosed.

It is not feasible to correct the genetic abnormality,so most treatments are aimed at suppressing unwanted symptoms. Given the frequent occurrence of difficultto-manage behavioral problems in PWS, clinicians often try low-dose antipsychotic medication. One study unexpectedly found that antipsychotic medications– which often lead to weight gain in patients with schizophrenia – was associated with weight loss in patients with PWS.[11]However, the small numbers of individuals with PWS make it difficult to conduct formal evaluations of the effectiveness of antipsychotic medications or other interventions, so it has not been possible to develop evidence-based treatment guidelines for the condition. In most cases, clinicians must use their judgment to individualize the treatment to the needs of each patient. As shown in the current case, the ongoing involvement of multiple disciplines along with educational and psychological support for the care-givers is often needed to address the complex needs of these patients and their families.

Funding

No funding support was obtained for preparing this case report.

Conflict of interest statement

The authors declare that they have no conflict of interest related to this manuscript.

Informed consent

The father of the patient signed an informed consent form and agreed to the publication of this case report

Authors’ contributions

SM drafted the manuscript. UKP critically reviewed the manuscript. SM and UKP both carried out the clinical diagnosis and the psychiatric evaluation. Both authors read and approved the final manuscript.

1. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet. 2009; 17(1): 3-13. doi: http://dx.doi.org/10.1038/ejhg.2008.165

2. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993; 91: 398–402

3. Lewis BA, Freebairn L, Heeger S, Cassidy SB. Speech and language skills of individuals with Prader-Willi syndrome.Am J Speech-Language Pathol. 2002; 11: 285–294. doi:http://dx.doi.org/10.1044/1058-0360(2002/033)

4. Curfs LM, Verhulst FC, Fryns JP. Behavioral and emotional problems in youngsters with Prader-Willi syndrome. Genet Couns. 1991; 2(1): 33–41

5. Holland AJ, Whittington JE, Butler J, Webb T, Boer H, Clarke D. Behavioral phenotypes associated with specific genetic disorders: evidence from population based study of people with Prader-Willi syndrome. Psychol Med. 2003; 33(1):141–153

6. Einfeld SL, Smith A, Durvasula S, Florio T, Tonge BJ. Behavior and emotional disturbance in Prader-Willi syndrome. Am J Med Genet. 1999; 82(2): 123–127. doi: http://dx.doi.org/10.1002/(SICI)1096-8628(19990115)82:2＜123::AIDAJMG4＞3.0.CO;2-C

7. Steinhausen HC, Eiholzer U, Hauffa BP, Malin Z. Behavioral and emotional disturbances in people with Prader-Willi syndrome. J Intellect Disabil Res. 2004; 48(1): 47–52. doi:http://dx.doi.org/10.1111/j.1365-2788.2004.00582.x

8. Dykens EM. Maladaptive and compulsive behavior in Prader-Willi syndrome: new insights from older adults. Am J Ment Retard. 2004; 109(2): 142–153

9. Veltman MW, Craig EE, Bolton PF. Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review. Psychiatr Genet. 2005; 15(4): 243–254

10. Vogels A, Van Den Ende J, Keymolen K, Mortier G, Devriendt K, Legius E, et al. Psychotic disorders in Prader-Willi syndrome. Am J Med Genet A. 2004; 127A(3): 238–243.doi: http://dx.doi.org/10.1002/ajmg.a.30004

11. Elliott JP, Cherpes G, Kamal K, Chopra I, Harrison C, Riedy M, et al. Relationship between antipsychotics and weight in patients with Prader–Willi syndrome.Pharmacotherapy. 2015; 35(3): 260-268

(received, 10-19-2015; accepted, 2-10-2016)

Dr. Mohapatra obtained his bachelor’s degree from MKCG Medical College, Berhampur, Odisha, India in 2007 and his MD from King George’s Medical University, Lucknow, India in 2012. He is currently working as a senior resident in the Department of Psychiatry in the Mental Health Institute in Sriram Chandra Bhanj (SCB) Medical College in Odisha. His main research interests are psychopharmacology and child psychiatry.

Prader-Willi綜合征患兒的行為與情緒表現(xiàn)

Satyakam M, Panda UK

Prader-Willi綜合征；精神癥狀；兒童期障礙;病例報(bào)告；印度

Prader-Willi syndrome is a neurodevelopmental disorder characterized by mental retardation and distinct physical, behavioral, and psychiatric features. Maladaptive behaviours, cognitive impairment,and impediments in speech and language seriously affect the early development and long-term functioning of individuals affected by the illness. We present a case of a 9-year-old child with Prader-Willi syndrome whose behavioural symptoms were treated with low-dose antipsychotic medications.

[Shanghai Arch Psychiatry. 2016; 28(2): 106-108.

http://dx.doi.org/10.11919/j.issn.1002-0829.215110]

Mental Health Institute, Sriram Chandra Bhanj (SCB) Medical College, Cuttack, Odisha, India

*correspondence: Dr. Satyakam Mohapatra, Mental Health Institute, S.C.B. Medical College, Cuttack - 753 007, Odisha, India.Email: satyakgmu@gmail.com

A full-text Chinese translation of this article will be available at http://dx.doi.org/10.11919/j.issn.1002-0829.215110 on August 25, 2016.

概述：Prader-Willi綜合征是一種神經(jīng)發(fā)育障礙，以精神發(fā)育遲滯以及明顯的軀體、行為與精神方面的表現(xiàn)為特征。適應(yīng)不良性行為、認(rèn)知損害以及言語(yǔ)和語(yǔ)言障礙嚴(yán)重影響患者早期發(fā)育，也會(huì)影響患者的長(zhǎng)期功能。本文報(bào)告一例9歲的Prader-Willi綜合征患兒，以低劑量抗精神病藥物治療其行為癥狀。

本文全文中文版從2016年8月25日起在

http://dx.doi.org/10.11919/j.issn.1002-0829.215110可供免費(fèi)閱覽下載