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Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.

Abstract

Ataxia telangiectasia (A-T) is a severe neurodegenerative disorder with variable immunodeficiency. Together with the Dutch A-T community, we investigated the opinion of A-T parents on an early A-T diagnosis in the asymptomatic phase of the disease. During an annual national meeting for A-T patients and families, the topic of an early A-T diagnosis was discussed in relation to the recent introduction of neonatal screening for severe combined immunodeficiency (SCID) in the Netherlands. Based on the discussion, individual arguments were identified and processed into a questionnaire, which was sent out to 64 A-T parents (32 families). Arguments included were insecurity to diagnosis, possible medical advantages, appropriate genetic counseling and family planning, loss of "golden" year(s), and early cancer screening for parents. The response rate was 55% (n = 35 parents). Twenty-six (74%) parents felt that the advantages of an early diagnosis outweighed the disadvantages, five parents thought that the disadvantages would outweigh the advantages (14%), and four parents did not indicate a preference.

Conclusion:

The majority of parents of a child with A-T would have preferred an early diagnosis during the asymptomatic phase of the disease, because the uncertainty during the diagnostic process had had a major impact on their lives. In addition, the knowledge of being carriers of an ATM gene mutation influenced decisions about family planning. Parents who opposed against an early diagnosis emphasized the joy of having a seemingly healthy child until diagnosis.What is Known:• Ataxia telangiectasia (A-T) is a devastating DNA repair disorder with a huge impact on quality of life of patients and their parents.• Patients with A-T may incidentally be identified at birth as the consequence of neonatal screening for severe combined immunodeficiency (SCID).What is New:• The majority of Dutch parents of A-T patients (74%) would have preferred an early diagnosis of their child in the asymptomatic phase of the disease.• Major arguments for an early A-T diagnosis were (1) the experienced insecurity in diagnostic trajectories and its impact on families and (2) the knowledge of being ATM mutation carriers when deciding about family planning. An argument against an early diagnosis is losing the joy of having a seemingly healthy child until diagnosis.

Authors+Show Affiliations

Department of Pediatric Neurology, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.Department of Pediatrics, Laboratory for Immunology, Leiden University Medical Center, Leiden, The Netherlands.Department of Medical Ethics and Health Law, Leiden University Medical Center, Leiden, The Netherlands.Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.Department of Pediatrics, Laboratory for Immunology, Leiden University Medical Center, Leiden, The Netherlands.Department of Pediatric Neurology, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands. michel.willemsen@radboudumc.nl.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31709473

Citation

Schoenaker, M H D., et al. "Early Diagnosis of Ataxia Telangiectasia in the Neonatal Phase: a Parents' Perspective." European Journal of Pediatrics, 2019.
Schoenaker MHD, Blom M, de Vries MC, et al. Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective. Eur J Pediatr. 2019.
Schoenaker, M. H. D., Blom, M., de Vries, M. C., Weemaes, C. M. R., van der Burg, M., & Willemsen, M. A. A. P. (2019). Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective. European Journal of Pediatrics, doi:10.1007/s00431-019-03479-5.
Schoenaker MHD, et al. Early Diagnosis of Ataxia Telangiectasia in the Neonatal Phase: a Parents' Perspective. Eur J Pediatr. 2019 Nov 11; PubMed PMID: 31709473.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective. AU - Schoenaker,M H D, AU - Blom,M, AU - de Vries,M C, AU - Weemaes,C M R, AU - van der Burg,M, AU - Willemsen,M A A P, Y1 - 2019/11/11/ PY - 2019/07/11/received PY - 2019/09/20/accepted PY - 2019/09/12/revised PY - 2019/11/12/entrez KW - Ataxia telangiectasia KW - Early diagnosis KW - Parents opinion KW - Parents perspective JF - European journal of pediatrics JO - Eur. J. Pediatr. N2 - Ataxia telangiectasia (A-T) is a severe neurodegenerative disorder with variable immunodeficiency. Together with the Dutch A-T community, we investigated the opinion of A-T parents on an early A-T diagnosis in the asymptomatic phase of the disease. During an annual national meeting for A-T patients and families, the topic of an early A-T diagnosis was discussed in relation to the recent introduction of neonatal screening for severe combined immunodeficiency (SCID) in the Netherlands. Based on the discussion, individual arguments were identified and processed into a questionnaire, which was sent out to 64 A-T parents (32 families). Arguments included were insecurity to diagnosis, possible medical advantages, appropriate genetic counseling and family planning, loss of "golden" year(s), and early cancer screening for parents. The response rate was 55% (n = 35 parents). Twenty-six (74%) parents felt that the advantages of an early diagnosis outweighed the disadvantages, five parents thought that the disadvantages would outweigh the advantages (14%), and four parents did not indicate a preference.Conclusion: The majority of parents of a child with A-T would have preferred an early diagnosis during the asymptomatic phase of the disease, because the uncertainty during the diagnostic process had had a major impact on their lives. In addition, the knowledge of being carriers of an ATM gene mutation influenced decisions about family planning. Parents who opposed against an early diagnosis emphasized the joy of having a seemingly healthy child until diagnosis.What is Known:• Ataxia telangiectasia (A-T) is a devastating DNA repair disorder with a huge impact on quality of life of patients and their parents.• Patients with A-T may incidentally be identified at birth as the consequence of neonatal screening for severe combined immunodeficiency (SCID).What is New:• The majority of Dutch parents of A-T patients (74%) would have preferred an early diagnosis of their child in the asymptomatic phase of the disease.• Major arguments for an early A-T diagnosis were (1) the experienced insecurity in diagnostic trajectories and its impact on families and (2) the knowledge of being ATM mutation carriers when deciding about family planning. An argument against an early diagnosis is losing the joy of having a seemingly healthy child until diagnosis. SN - 1432-1076 UR - https://www.unboundmedicine.com/medline/citation/31709473/Early_diagnosis_of_ataxia_telangiectasia_in_the_neonatal_phase:_a_parents'_perspective L2 - https://dx.doi.org/10.1007/s00431-019-03479-5 DB - PRIME DP - Unbound Medicine ER -