Early Therapeutic Intervention in a Child with Beckwith–Wiedemann Syndrome in Inpatient and Outpatient Conditions — Case Report
Introduction. The Beckwith–Wiedemann syndrome (BWS) is a rare disorder characterized by a wide spectrum of symptoms i.a. umbilical hernia or omphalocele, macroglossia and above-average pre/postnatal growth (macrosomia). Aim. To present a case report of a child with BWS who underwent an early logoped...
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Państwowa Akademia Nauk Stosowanych we Włocławku
2019-06-01
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| Series: | Pielęgniarstwo Neurologiczne i Neurochirurgiczne |
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| Online Access: | https://apcz.umk.pl/PNIN/article/view/38131 |
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| author | Teresa Kaczan Robert Śmigiel Magdalena Kazimierska-Zając Robert Dymarek Joanna Rosińczuk |
| author_facet | Teresa Kaczan Robert Śmigiel Magdalena Kazimierska-Zając Robert Dymarek Joanna Rosińczuk |
| author_sort | Teresa Kaczan |
| collection | DOAJ |
| description | Introduction. The Beckwith–Wiedemann syndrome (BWS) is a rare disorder characterized by a wide spectrum of symptoms i.a. umbilical hernia or omphalocele, macroglossia and above-average pre/postnatal growth (macrosomia).
Aim. To present a case report of a child with BWS who underwent an early logopedic intervention and rehabilitation procedures including Bobath neuro-developmental treatment (NDT) and orofacial stimulation based on the Castillo-Morales concept (CMC).
Case Report. The paper presents a case of a girl with BWS and the course of her psychomotor development during the 24 months of her life. The child has numerous defects typical for this syndrome, i.e. facial dysmorphism, macrosomia, and significant hypertrophy of the tongue as well as embryonal carcinomas such as hepatoblastoma and neuroblastoma. Psychomotor development was assessed at the age of 12 months using the Munich Functional Developmental Diagnostics (MFDD). At the age of 2, development of fine and gross motor skills and independence level do not differ significantly from the norm. The biggest problem concerns verbalization of needs due to the enlarged tongue. The girl still remains under multidisciplinary team care and is intensively rehabilitated.
Discussion. There is no doubt that the care of children with BWS requires an interdisciplinary team of specialists. The child needs not only proper physical development, but also correct interpersonal relationships built on verbal communication. Therapy should be started as early as possible before bad habits develop.
Conclusions. The knowledge of clinical features characteristic for the syndrome allows for rapid diagnosis and providing interdisciplinary care since the moment of birth. Children with BWS develop in individual ways depending on the type of genetic cause and additional defects. The care of BWS children must involve permanent and interdisciplinary co-operation with many specialists. (JNNN 2019;8(1):23–29) |
| format | Article |
| id | doaj-art-ec3de35d24b347eea11b4b413121f696 |
| institution | OA Journals |
| issn | 2084-8021 2299-0321 |
| language | English |
| publishDate | 2019-06-01 |
| publisher | Państwowa Akademia Nauk Stosowanych we Włocławku |
| record_format | Article |
| series | Pielęgniarstwo Neurologiczne i Neurochirurgiczne |
| spelling | doaj-art-ec3de35d24b347eea11b4b413121f6962025-08-20T01:59:13ZengPaństwowa Akademia Nauk Stosowanych we WłocławkuPielęgniarstwo Neurologiczne i Neurochirurgiczne2084-80212299-03212019-06-0181232910.15225/PNN.2019.8.1.433733Early Therapeutic Intervention in a Child with Beckwith–Wiedemann Syndrome in Inpatient and Outpatient Conditions — Case ReportTeresa Kaczan0Robert Śmigiel1Magdalena Kazimierska-Zając2Robert Dymarek3Joanna Rosińczuk4Department of Nervous System Diseases, Faculty of Health Sciences, Wrocław Medical University, PolandDepartment of Propaedeutics of Paediatrics Rare Disorders, Faculty of Health Sciences, Wrocław Medical University, PolandDepartment of Nervous System Diseases, Faculty of Health Sciences, Wrocław Medical University, PolandDepartment of Nervous System Diseases, Faculty of Health Sciences, Wrocław Medical University, PolandDepartment of Nervous System Diseases, Faculty of Health Sciences, Wrocław Medical University, PolandIntroduction. The Beckwith–Wiedemann syndrome (BWS) is a rare disorder characterized by a wide spectrum of symptoms i.a. umbilical hernia or omphalocele, macroglossia and above-average pre/postnatal growth (macrosomia). Aim. To present a case report of a child with BWS who underwent an early logopedic intervention and rehabilitation procedures including Bobath neuro-developmental treatment (NDT) and orofacial stimulation based on the Castillo-Morales concept (CMC). Case Report. The paper presents a case of a girl with BWS and the course of her psychomotor development during the 24 months of her life. The child has numerous defects typical for this syndrome, i.e. facial dysmorphism, macrosomia, and significant hypertrophy of the tongue as well as embryonal carcinomas such as hepatoblastoma and neuroblastoma. Psychomotor development was assessed at the age of 12 months using the Munich Functional Developmental Diagnostics (MFDD). At the age of 2, development of fine and gross motor skills and independence level do not differ significantly from the norm. The biggest problem concerns verbalization of needs due to the enlarged tongue. The girl still remains under multidisciplinary team care and is intensively rehabilitated. Discussion. There is no doubt that the care of children with BWS requires an interdisciplinary team of specialists. The child needs not only proper physical development, but also correct interpersonal relationships built on verbal communication. Therapy should be started as early as possible before bad habits develop. Conclusions. The knowledge of clinical features characteristic for the syndrome allows for rapid diagnosis and providing interdisciplinary care since the moment of birth. Children with BWS develop in individual ways depending on the type of genetic cause and additional defects. The care of BWS children must involve permanent and interdisciplinary co-operation with many specialists. (JNNN 2019;8(1):23–29)https://apcz.umk.pl/PNIN/article/view/38131beckwith–wiedemann syndromechild healthrare genetic diseasesearly interventionspeech therapydevelopmental rehabilitation |
| spellingShingle | Teresa Kaczan Robert Śmigiel Magdalena Kazimierska-Zając Robert Dymarek Joanna Rosińczuk Early Therapeutic Intervention in a Child with Beckwith–Wiedemann Syndrome in Inpatient and Outpatient Conditions — Case Report Pielęgniarstwo Neurologiczne i Neurochirurgiczne beckwith–wiedemann syndrome child health rare genetic diseases early intervention speech therapy developmental rehabilitation |
| title | Early Therapeutic Intervention in a Child with Beckwith–Wiedemann Syndrome in Inpatient and Outpatient Conditions — Case Report |
| title_full | Early Therapeutic Intervention in a Child with Beckwith–Wiedemann Syndrome in Inpatient and Outpatient Conditions — Case Report |
| title_fullStr | Early Therapeutic Intervention in a Child with Beckwith–Wiedemann Syndrome in Inpatient and Outpatient Conditions — Case Report |
| title_full_unstemmed | Early Therapeutic Intervention in a Child with Beckwith–Wiedemann Syndrome in Inpatient and Outpatient Conditions — Case Report |
| title_short | Early Therapeutic Intervention in a Child with Beckwith–Wiedemann Syndrome in Inpatient and Outpatient Conditions — Case Report |
| title_sort | early therapeutic intervention in a child with beckwith wiedemann syndrome in inpatient and outpatient conditions case report |
| topic | beckwith–wiedemann syndrome child health rare genetic diseases early intervention speech therapy developmental rehabilitation |
| url | https://apcz.umk.pl/PNIN/article/view/38131 |
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