Burden and Parental Satisfaction in Informal Caregivers of People with Angelman Syndrome: A Mix-method Study

Teresa Ferreira, Rute Brites, Tânia Brandão, Odete Nunes, João Hipólito

Abstract


Background: Studies focusing on the burden of parents informally caring for offspring with chronic illnesses such as Angelman Syndrome are rare, despite the challenging task of parenting a person with such a disabling illness. The present article seeks to study the experience of being a parent and, simultaneously, an informal caregiver for a person with Angelman Syndrome, pursuing to investigate the effects of autonomy on the caregiver burden and how parental satisfaction mediates this relationship.


Methods: A mixed methods research was conducted. The quantitative cross-sectional study involved 24 parents of a person with Angelman Syndrome, 75% mothers (Mothers Mage = 42.9, SD= 2.1; Fathers Mage =50.00, SD= 4.4). Five self-reported instruments were applied:  sociodemographic questionnaire, Katz Index, Parental Satisfaction Scale and Zarit Caregiver Burden Scale. The qualitative study involved four parents (75% mothers), to whom we conducted a semi-structured interview.


Results: The results show that the greater the general satisfaction, the lower the feelings of burden. Also, an indirect effect of autonomy on caregiver burden through general satisfaction was found. The qualitative study revealed the presence of feelings such as burden, sadness, shock, fear, uncertainty, and hope, being the main complaints the lack of personal time and the multitude of responsibilities and activities. All data was collected during a global pandemic situation, inevitably affecting the results of the study.


Conclusion: Results confirm the emotional impact of being, simultaneously, a parent and a caregiver of a person diagnosed with Angelman Syndrome. Further studies with this population are needed to find out the risk and protective factors of symptoms of burden within this population. 


Keywords


Angelman Syndrome; Informal Caregiver; Burden; Parental Satisfaction; Autonomy.

Full Text:

PDF

References


Albuquerque, S., Pereira, M., Fonseca, A., & Canavarro, M. (2013). Deficiência e parentalidade: A influência das perceções de contribuições positivas dos pais na sobrecarga percebida e na qualidade de vida [Disability and parenting: The influence of perceptions of positive contributions of parents on perceived burden and quality of life]. Atas do II Congresso Ibero-Americano / III Luso-Brasileiro de Psicologia da Saúde. Faro: Universidade do Algarve.

Andrade, N. M. (2015). A influência do bem-estar das mães no desenvolvimento dos filhos na primeira infância [The influence of mothers’ well-being on the development of children in early childhood]. [Dissertação de Mestrado, Universidade Autónoma de Lisboa]. Repositório Camões. https://repositorio.ual.pt/handle/11144/2445

Angel. (2018). Campanha informativa sobre Síndrome de Angelman [Informative campain regarding Angelman syndrome]. http://angel.pt/Sabia_que_completo.pdf

Aranda, C. (2013). An ecological investigation of contextual factors and cognitions that impact parental responsivity for low-income mothers of preschool-age children. [Doctorate Thesis, University of Oregon Graduate School]. Scholar’s Bank. https://scholarsbank.uoregon.edu/xmlui/handle/1794/13399

Araújo, J., Cirne, G., Lima, N., Cavalcanti, F., Cacho, E., & Cacho, R. (2017). Sobrecarga de cuidadores familiares e independência funcional de pacientes pós-acidente vascular encefálico. Revista de Ciências Médicas, 25(107). https://doi.org/10.24220/2318- 0897v25n3a2991

Barroso, R., & Machado, C. (2010). Definições, dimensões e determinantes da parentalidade. Psychologia, 52(1), 211-229. http://dx.doi.org/10.14195/1647-8606_52-1_10

Bayen, E., Laigle-Donadey, F., Prouté, M., Hoang-Xuan, K., Joël, M., & Delattre, J. (2017). The multidimensional burden of informal caregivers in primary malignant brain tumor. Support Care Cancer, 25, 245-253. https://doi.org/10.1007/s00520-016-3397-6

Bonis, S. (2016). Stresse and parents of children with autism: A review of literature. Issues in Mental Health Nursing, 37(3), 153-163. http://dx.doi.org/10.3109/01612840.2015.1116030

Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77-101. https://doi.org/10.1191/1478088706qp063oa

Brites, R. (2010). Parentalidade, auto-estima e auto-eficácia: A situação de doença crónica de um filho [Parenting, self-esteem and self-efficacy: The chronic illness situation of a child]. [Tese de Doutoramento, Universidade do Algarve]. Sapientia: Repositório da Universidade do Algarve. https://sapientia.ualg.pt/handle/10400.1/10621

Brites, R., Brandão, T., Pereira, F., Hipólito, J., & Nunes, O. (2020). Effects of supporting patients with dementia: A study with dyads. Perspectives on Psychiatric Care, 56, 614- 620. https://doi.org/10.1111/ppc.12476

Budisteanu, M., Papuc, S. M., Tutulan-Cunita, A., Craiu, D., Barca, D., Iliescu, C., & Arghir, A. (2013). Angelman syndrome patient management: 5 years of clinical experience. International Journal on Disability and Human Development, 12(3). https://doi.org/10.1515/ijdhd-2012-0107

Buntix, I. M., Hennekam, R. C., Brouwer, O. F., Stroink, H., Beuten, J., Mangelschots, K., & Fryns, J. P. (1995). Clinical profile of Angelman Syndrome at different ages. American Journal of Medical Genetics, 56, 176-183. https://doi.org/10.1002/ajmg.1320560213

Byrne, M., Hurley, D., Daly, L., & Cunningham, C. (2010). Health status of caregivers of children with cerebral palsy. Child: Care, Health and Development, 36(5), 696-702. https://doi.org/10.1111/j.1365-2214.2009.01047.x

Campbell, J., Whittington, M., Kim, C., VanderVeen, G., Knupp, K., & Gammaitoni, A. (2018). Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey. Epilepsy & Behavior, 80, 152-156. https://doi.org/10.1016/j.yebeh.2018.01.003

Canning, R. D., Harris, E. S., & Kelleher, K. J. (1996). Factors predicting distress among caregivers to children with chronic medical conditions. Journal of Pediatric Psychology, 21(5), 735-749. http://doi.org/doi:10.1093/jpepsy/21.5.735

Caputo, A., Vicario, C. M., Cazzato, V., & Martino, G. (2022). Editorial on the research topic psychological factors as determinants of medical conditions-Volume II. Frontiers in Psychology, 643. https://doi.org/10.3389/fpsyg.2022.865235

Cardinali, P., Migliorini, L., & Rania, N. (2019). The caregiving experiences of fathers and mothers of children with rare diseases in Italy: Challenges and social support perceptions. Frontiers in Psychology, 10(1780), 1-14. https://doi.org/10.3389/fpsyg.2019.01780

Castelhano, P. J. (2012). A sobrecarga dos pais enquanto cuidadores principais da criança com espinha bífida [The burden of parents as primary caregivers of the child with spina bífida]. [Dissertação de Mestrado, Escola Superior de Enfermagem de Coimbra]. Repositório Científico da ESEnfC.

https://repositorio.esenfc.pt/rc/index.php?module=repository&target=list&clear=1

Chou, K. (2000). Caregiver burden: A concept analysis. Journal of Pediatric Nursing, 15(6), 398-407. https://doi.org/10.1053/jpdn.2000.16709

Clayton-Smith, J., & Laan, L. (2003). Angelman syndrome: a review of clinical and genetic aspects. Journal of Medical Genetics, 40, 87-95. http://doi.org/10.1136/jmg.40.2.87

Clyburn, L., Stones, M., Hadjistavropoulos, T., & Tuokko, H. (2000). Predicting caregiver burden and depression in Alzheimer’s disease. Journal of Gerontology, 55(1), 2-13. https://doi.org/10.1093/geronb/55.1.s2

Conversano, C., & Di Giuseppe, M. (2021). Psychological factors as determinants of chronic conditions: clinical and psychodynamic advances. Frontiers in Psychology, 12, 635708. https://doi.org/10.3389/fpsyg.2021.635708

Cook, R., Klein, M. & Tessier, A. (2008). Adapting Early Childhood Curricula for Children with Special Needs (7th Ed.). Pearson.

Correia, L. M., & Serrano, A.M. (Orgs), (2000). Envolvimento Parental em Intervenção Precoce. Das Práticas Centradas na Criança, às Práticas Centradas na Família. Porto Editora.

Dawson, C., Aryeetey, G., Agyemang, S., Mensah, K., Addo, R., & Nonvignon, J. (2021). Costs, burden and quality of life associated with informal caregiving for children with Lymphoma attending a tertiary hospital in Ghana. International Journal of Care Coordination, 23(4), 165-172. https://doi.org/10.1177/2053434520981357

Delve, L., Samuelsson, L., Talborn, A., Fasth, A., & Hallberg, L. (2006). Stresse and wll-being among parents of children with rare diseases: a prospective intervention study. Journal of Advanced Nursing, 53(4), 392-402. https://doi.org/10.1111/j.1365- 2648.2006.03736.x

Di Giacomo, D., Ranieri, J., Nasta, L., Moscato, S., Guerra, F., & Passafiume, D. (2019). Psychological distress in Interstitial Cystitis/Bladder Pain Syndrome: A cross-sectional study on emotional patterns. Mediterranean Journal of Clinical Psychology, 7(2). https://doi.org/10.6092/2282-1619/2019.7.2135

Duarte, Y. A., Andrade, C. L., & Lebrão, M. L. (2007). O índex de Katz na avaliação da funcionalidade dos idosos. Revista da Escola de Enfermagem da USP, 41(2), 317-325. https://doi.org/10.1590/S0080-62342007000200021

European Medicines Agency. (2019). Public summary of opinion on orphan designation Gaboxadol monohydrate for the treatment of Angelman syndrome. https://www.ema.europa.eu/en/documents/orphan-designation/eu/3/19/2172-public- summary-opinion-orphan-designation-gaboxadol-monohydrate-treatment-angelman- syndrome_en.pdf

Fitzgerald, J., Wilson, C., Kelly, C., & Gallagher, L. (2021). More than a box of puzzles: Understanding the parental experience of having a child with a rare genetic condition. European Journal of Medical Genetics, 64(4), 1-9. https://doi.org/10.1016/j.ejmg.2021.104164

Fonseca, T. S. (2010). Sobrecarga, depressão e generatividade em mulheres cuidadoras informais [Burden, depression and generativeness in women informal caregivers]. [Dissertação de Mestrado, Faculdade de Psicologia]. Repositório da Universidade de Lisboa. https://repositorio.ul.pt/handle/10451/2495

Frisone, F., Sicari, F., Settineri, S., & Merlo, E. M. (2021). Clinical psychological assessment of stress: a narrative review of the last 5 years. Clinical Neuropsychiatry, 18(2), 91-100. https://doi.org/10.36131/cnfioritieditore20210203

Gérain, P., & Zech, E. (2019). Informal caregiver burnout? Development of a theoretical framework to understand the impact of caregiving. Frontiers in Psychology, 10:1748. http://doi.org/10.3389/fpsyg.2019.01748

Goldman, S. E., Bichell, T. J., Surdyka, K., & Malow, B. A. (2011). Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stresse. Journal of Intellectual Disability Research, 56(6), 600–608. https://doi.org/10.1111/j.1365-2788.2011.01499.x

Goren, A., Montgomery, W., Kahle-Wrobleski, K., Nakamura, T., & Ueda, K. (2016). Impact of caring for persons with Alzheimer’s disease or dementia on caregivers’ health outcomes: findings from a community-based survey in Japan. BMC Geriatrics, 16(122). http://dx.doi.org/10.1186/s12877-016-0298-y

Gratão, A., Talmelli, L., Figueiredo, L., Rosset, I., Freitas, C., & Rodrigues, R. (2013). Dependência funcional de idosos e a sobrecarga do cuidador. Revista da Escola de Enfermagem da USP, 47(1), 137-144. https://doi.org/10.1590/S0080-62342013000100017

Grieco, J. C., Bahr, R. H., Schoenberg, M. R., Conover, L., Mackie, L. N., & Weeber, E. J. (2018). Quantitative Measurement of Communication Ability in Children with Angelman Syndrome.Journal of Applied Research in Intellectual Disabilities: JARID, 31(1), e49–e58. https://doi.org/10.1111/jar.12305

Griffith, G. M., Hastings, R. P., Oliver, C., Howlin, P., Moss, J., Petty, J., & Tunnicliffe, P. (2011). Psychological well-being in parents of children with Angelman, Cornelia de Lange and Cri du Chat syndromes. Journal of Intellectual Disability Research, 55(4), 397–410. https://doi.org/10.1111/j.1365-2788.2011.01386.x

Grunfeld, E., Coyle, D., Whelan, T., Clinch, J., Reyno, L., Earl, C., Willan, A., Viola, R., Coristine, M., Janz, T., & Glossop, R. (2004). Family caregiver burden: Results of a longitudinal study of breast cancer patients and their principal caregivers. Canadian Medical Association Journal, 170(12), 1795-1801. https://doi.org/10.1503/cmaj.1031205

Guerra, C., Dias, M., Filha, M., Andrade, F., Reichert, A., & Araújo, V. (2015). Do sonho a realidade: Vivência de mães de filhos com deficiência. Texto & Contexto Enfermagem, 24(2), 459-466. http://dx.doi.org/10.1590/0104-07072015000992014

Halverson, C. F., & Duke, H. P. (1991). Parent Satisfaction scale. In J. Touliatos, B. Perlmutter, & G. Holden (Eds) (2001). Handbook of Family Measurement Techniques: Abstracts, Volume 2 (pp. 272). SAGE.

Hastings, R., & Brown, T. (2002). Behavior problems of children with Autism, parental self- efficacy and mental health. American Journal on Mental Retardation, 107(3), 222-232. https://doi.org/10.1352/0895-8017(2002)107<0222:BPOCWA>2.0.CO;2

Hayes, A. (2015). An index and test of linear moderated mediation. Multivariate Behavioral Research, 50(1), 1-22. https://doi.org/10.1080/00273171.2014.962683

Hoffmann, R., & Mitchell, A. (1998). Caregiver burden: Historical development. Nursing Forum, 33(4), 5-11. https://doi.org/10.1111/j.1744-6198.1998.tb00223.x

Isa, S., Ishak, I., Rahman, A., Saat, N., Din, N., Lubis, S., & Ismail, M. (2016). Health and quality of life among the caregivers of children with disabilities: A review of literature. Asian Journal of Psychiatry, 23. http://dx.doi.org/10.1016/j.ajp.2016.07.007

Keute, M., Miller, M. T., Krishnan, M., Sadhwani, A., Chamberlain, S., Thibert, R. L., Tan, W., Bird, L. M., & Hipp, J. F. (2020). Angelman Syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Molecular Psychiatry. https://doi.org/10.1038/s41380-020-0858-6

Li, Y., Li, J., Zhang, Y., Ding, Y., & Hu, X. (2022). The effectiveness of e-Health interventions on caregiver burden, depression, and quality of life in informal caregivers of patients with cancer: A systematic review and meta-analysis of randomized controlled trials. International journal of nursing studies, 104179. https://doi.org/10.1016/j.ijnurstu.2022.104179

Lynch, J. (2002). Parents’ self-efficacy beliefs, parents’ gender, children reader self-perceptions, reading achievement and gender. Journal of Research in Reading, 25(1), 54-67. https://doi.org/10.1111/1467-9817.00158

Manalel, J. A., Sumrall, S., Davidson, H., Grewal, M., Granovetter, M. A., & Koehly, L. M. (2022). Stress, coping, and positive aspects of caregiving among caregivers of children with rare disease. Psychology & Health, 1-17. https://doi.org/10.1080/08870446.2022.2057494

Maris, A. F., & Trott, A. (2011). A patogénese genética e molecular da Síndrome de Angelman. Jornal Brasileiro de Psiquiatria, 60(4), 321-330. http://doi.org/10.1590/S0047-20852011000400014

Maronesi, L., Silva, N., Cantu, S., & Santos, A. (2014). Indicadores de estresse e sobrecarga em cuidadores formais e informais de pacientes oncológicos. Estudos e Pesquisas em Psicologia, 14(3), 877-892.

Marquis, S., Hayes M., & McGrail, K. (2019). Factors affecting the health of caregivers of children who have an intellectual/developmental disability. Journal of Policy and Practice in the Intellectual Disabilities, 16(3), 201-216. https://doi.org/10.1111/jppi.12283

Martins, M. (2013). Competências parentais em pais com filhos portadores de deficiência: Um estudo descritivo. [Masters Dissertation, Faculdade de Ciências Humanas e Sociais, Universidade do Algarve, Faro]. Sapientia Repositório da Universidade do Algarve. https://sapientia.ualg.pt/handle/10400.1/3614

Martins, S. M. (2008). Satisfação parental e impacto familiar – Contribuição para a validação de dois instrumentos. [Masters Dissertation, Instituto Superior de Psicologia Aplicada]. Repositório do ISPA. http://repositorio.ispa.pt/handle/10400.12/669?mode=full

Martins, T., Ribeiro, J., & Garrett, C. (2003). Estudo de validação do questionário de avaliação da sobrecarga para cuidadores informais. Psicologia, Saúde e Doenças, 4(1), 131-148.

Merlo, E. M. (2019). Opinion Article: The role of psychological features in chronic diseases, advancements and perspectives. Mediterranean Journal of Clinical Psychology, 7(3). http://doi.org/10.6092/2282-1619/2019.7.2341

Nielsen, L. (1999). Necessidades Educativas Especiais na Sala de Aulas: Um Guia para Professores. Porto Editora.

Papastavrou, E., Kalokerinou, A., Papacostas, S., Tsangari, T., & Sourtzi, P. (2007). Caring for a relative with dementia: Family caregiver burden. Journal of Advanced Nursing, 58(5), 446-457. https://doi.org/10.1111/j.1365-2648.2007.04250.x

Pelc, K., Boyd, S. G., Cheron, G., & Dan, B. (2008). Epilepsy in Angelman syndrome. Seizure, 17(3), 211–217. https://doi.org/10.1016/j.seizure.2007.08.004

Penner, K. A., Johnston, J., Faircloth, B. H., Irish, P., & Williams, C. A. (1993). Communication, cognition and social interaction in the Angelman Syndrome. American Journal of Medical Genetics, 46, 34-39. http://doi.org/10.1002/ajmg.1320460108

Pereira, F. (2015). Necessidades dos cuidadores de doentes com demência. [Doctorate Thesis, Universidade Autónoma de Lisboa, Lisboa] Camões Repositóio Institucional da Universidade Autónoma de Lisboa. https://repositorio.ual.pt/handle/11144/1870?locale=en

Pinto, R., Torquato, I., Reichert, A., Neto, V., & Saraiva, A. (2016). Autismo infantil: Impacto do diagnóstico e repercussões nas relações. Revista Gaúcha de Enfermagem, 37(3). http://dx.doi.org/10.1590/1983- 1447.2016.03.61572

Prieto, V., Rozmus, C., Cohen, E., & LoBiondo-Wood, G. (2022). Caregiver burden, caregiving satisfaction, and health-related quality of life among caregivers of children with medical complexity. Pediatric Nursing, 48(3), 111-121.

Rangira, D., Najeeb, H., Shune, S. E., & Namasivayam-MacDonald, A. (2022). Understanding Burden in Caregivers of Adults with Dysphagia: A Systematic Review. American Journal of Speech-Language Pathology, 31(1), 486-501. https://doi.org/10.1044/2021_AJSLP-21-00249

Ricarte, L. (2009). Sobrecarga do cuidador informal de idosos dependentes no concelho da Ribeira Grande. [Dissertação de Mestrado, Instituto de Ciências Biomédicas de Abel Salazar da Universidade do Porto, Porto]. Repositório Aberto da Universidade do Porto. https://repositorio-aberto.up.pt/handle/10216/19131?locale=pt

Russel, F. (2003). The expectations of parents of disabled children. British Journal of Special Education, 30(3), 144-149. https://doi.org/10.1111/1467-8527.00300

Sales, E. (2003). Family burden and quality of life. Quality of Life Research, 12(1), 33-41. https://doi.org/10.1023/A:1023513218433

Samadi, S. A., Abdollahi-Boghrabadi, G., & McConkey, R. (2020). Parental satisfaction with caregiving among parents of children with autism spectrum disorders, attention deficit and hyperactivity, intellectual disabilities and typically developing. Early Child Development and Care, 190(7), 1115-1122. https://doi.org/10.1080/03004430.2018.1518903

Santos, A. (2019). Sobrecarga e depressão em cuidadores informais de idosos dependentes. [Dissertação de Mestrado, Universidade Autónoma de Lisboa, Lisboa]. Repositório Camões. https://repositorio.ual.pt/handle/11144/4327

Sequeira, C. A. (2010). Adaptação e validação da escala de Sobrecarga do Cuidador de Zarit. Referência, 12, 9-16.

Shahar, G. (2020). Interdisciplinarity and integration: an introduction to the special issue on psychopathology in medical settings. Journal of Clinical Psychology in Medical Settings, 28(1), 1-5. https://doi.org/10.1007/s10880-020-09752-2

Silva, N., & Dessen, M. (2001). Deficiência mental e família: Implicações para o desenvolvimento da criança. Psicologia: Teoria e Pesquisa, 17(2), 133-141. https://dx.doi.org/10.1590/S0102-37722001000200005

Singh, T., India, V., & India, R. R. (2008). Impact of disability of mentally retarded persons on their parents. Indian Journal of Psychological Medicine, 30(2), 98-104. https://doi.org/10.1177/0975156420080208

Sirri, L., Fabbri, S., Fava, G. A., & Sonino, N. (2007). New strategies in the assessment of psychological factors affecting medical conditions. Journal of Personality Assessment, 89(3), 216-228. http://dx.doi.org/10.1080/00223890701629649

Summers, J. A., Alison, D. B., Lynch, P. S., & Sandler, L. (1995). Behaviour problems in Angelman Syndrome. Journal of Intellectual Disability Research, 39(2), 97-106. https://doi.org/10.1111/j.1365-2788.1995.tb00477.x

Teodoro, A. T., Chaves, D. Y., Crenitte, P. A., Hage, S. R., & Lamônica, D. A. (2019). Linguagem, neurodesenvolvimento e comportamento na Sídrome de Angelman: Relato de caso. Codas, 31(4). http://doi.org/10.1590/2317-1782/20182018177

Thibert, R. L., Larson, A. M., Hsieh, D. T., Raby, A. R., & Thiele, E. A. (2013). Neurologic Manifestations of Angelman Syndrome. Pediatric Neurology, 48(4), 271–279. https://doi.org/10.1016/j.pediatrneurol.2012.09.015

Thomson, A. K. (2011). Parental and carer responses to Angelman syndrome and Prader-Willi syndrome. [Doctorate Thesis, School of Exercise, Biomedical and Health Sciences]. Edith Cowan University Institutional Repository.

Trindade, I., Almeida, D., Romão, M., Rocha, S., Fernandes, S., Varela, V., & Braga, M. (2017). Caracterização do grau de sobrecarga dos cuidadores de utentes dependentes da Unidade de Saúde Familiar USF Descobertas. Revista Portuguesa de Medicina Geral e Familiar, 33, 178-186. http://dx.doi.org/10.32385/rpmgf.v33i3.12160

Truitt, M., Biesecker, B., Capone, G., Bailey, T., & Erby, L. (2011). The role of hope in adaptation to uncertainty: The experience of caregivers of children with Down syndrome. Patient Education and Counseling, 87, 233-238. https://doi.org/10.1016/j.pec.2011.08.015

Van den Borne, H., Van Hooren, R., Van Gestel, M., Rienmeijer, P., Fryns, J., & Curfs, L. (1999). Psychosocial problems, coping strategies, and the need for information of parents of children with Prader–Willi syndrome and Angelman syndrome. Patient Education and Counseling, 38, 205–216. https://doi.org/10.1016/S0738-3991(99)00004-X

Vasileiou, K., Barnett, J., Barreto, M., Vines, J., Atkinson, M., Lawson, S., & Wilson, M. (2017). Experiences of loneliness associated with being an informal caregiver: A qualitative investigation. Frontiers in Psychology, 8(585). http://dx.doi.org/10.3389/fpsyg.2017.00585

Willgoss, T., Cassater, D., Connor, S., Krishnan, M. L., Miller, M. T., Dias-Barbosa, C., Phillips, D., McCormack, J., Bird, L. M., Burdine, R. D., Claridge, S., & Bichell, T. J. (2020). Measuring what matters to individuals with angelman syndrome and their families: Development of a patient-centered disease concept model. Child Psychiatry & Human Development. https://doi.org/10.1007/s10578-020-01051-z

Williams, C. A. (2005). Neurological aspects of the Angelman Syndrome. Brain & Development, 27, 88-94. http://doi.org/10.1016/j.braindev.2003.09.014

Williams, C. A., & Frias, J. L. (1982). The Angelman (“happy puppet”) Syndrome. American Journal of Medical Genetics, 11, 453-460. http://doi.org/10.1002/ajmg.1320110411

Williams, C. A., Angelman, H., Clayton-Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J. H., Magenis, R. E., Schinzel, A., Wagstaff, J., Whidden, E. M., & Zori, R. T. (1995). Angelman Syndrome: Consensus for diagnostic criteria. American Journal of Medical Genetics, 56, 237-238. https://doi.org/10.1002/ajmg.1320560224

Williams, C. A., Zori, R. T., Hendrickson, J., Stalker, H., Marum, T., Whidden, E., & Driscoll, D. J. (1995). Angelman syndrome. Current Problems in Pediatrics, 25(7), 216-231. https://doi.org/10.1016/S0045-9380(06)80036-8




DOI: https://doi.org/10.13129/2282-1619/mjcp-3439

Refbacks

  • There are currently no refbacks.