Epileptic spasms in individuals with Down syndrome: A review of the current literature

Daniel J. Kats; Katherine J. Roche; Brian G. Skotko

doi:10.1002/epi4.12412

Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention

The Scientific World JOURNAL ◽

10.1100/tsw.2006.249 ◽

2006 ◽

Vol 6 ◽

pp. 1517-1541 ◽

Cited By ~ 20

Author(s):

Meir Lotan ◽

Bruria Ben-Zeev

Keyword(s):

Down Syndrome ◽

Present Article ◽

Rett Syndrome ◽

Current Literature ◽

Clinical Characteristics ◽

Genetic Disorder ◽

Linked Gene ◽

Classical Expression ◽

Basic Understanding ◽

The Individual

Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. This article is an introduction to RS. It presents the basic understanding of common characteristics typical of this disorder, and the variants from the classical expression of RS. The present article will review the current literature on RS, specially focusing on the clinical characteristics of the disorder. The intention of the article is to set a clear, up-to-date picture of the individual with RS to prepare the clinician for their future meetings with this population.

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A new tool to assess understanding of Down syndrome screening information presented by midwives

British Journal of Midwifery ◽

10.12968/bjom.2019.27.11.694 ◽

2019 ◽

Vol 27 (11) ◽

pp. 694-715 ◽

Cited By ~ 3

Author(s):

Sophie John ◽

Maggie Kirk ◽

Emma Tonkin ◽

Ian Stuart-Hamilton

Keyword(s):

Down Syndrome ◽

Current Literature ◽

Assessment Tool ◽

Cognitive Status ◽

Midwifery Practice ◽

Information And Communication ◽

Insight Into ◽

New Framework ◽

Down Syndrome Screening

Aim To identify factors that could influence women's understanding of Down syndrome (DS) screening information presented by midwives. Methods Current literature was scrutinised. Components that could influence women's understanding were identified and a new framework was developed and refined. Measures were selected and developed to create a tool to assess the framework. Findings A new framework and assessment tool, measuring understanding of screening information and communication (MUSIC), was developed to assess women's understanding of DS screening information, their cognitive status and the midwives' communicative style. Conclusion This framework is the first of its kind, encompassing both women's cognitive status and midwife communication as an influence on women's understanding. Applying the framework and tool could inform midwifery practice by providing an insight into whether, to what extent and how, cognitive status influences understanding of DS screening information, the importance of tailoring information to each woman and highlighting areas of communication that are most effective.

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Epileptic Spasms in Patients With Down Syndrome: Experiences From Caregivers

Journal of Child Neurology ◽

10.1177/0883073820932770 ◽

2020 ◽

Vol 35 (12) ◽

pp. 813-819

Author(s):

Daniel J. Kats ◽

Vasiliki Patsiogiannis ◽

Brian G. Skotko

Keyword(s):

Autism Spectrum Disorder ◽

Down Syndrome ◽

Emotional Support ◽

Chart Review ◽

Developmental Delays ◽

Treatment Options ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Epileptic Spasms

Epileptic spasms are the most common type of seizure in infants with Down syndrome; however, the scope of current literature is largely limited to treatment options. We performed a chart review of patients seen at a Down syndrome specialty clinic to identify potential developmental sequelae of Down syndrome and epileptic spasms. We further interviewed parents of the children with Down syndrome and epileptic spasms to identify areas for improvement in counseling, diagnosis, and follow-up. Persistent developmental delays and autism spectrum disorder were highly prevalent in our patients. Caregivers attributed delays in treatment to insufficient counseling and awareness of epileptic spasms. They also identified inadequate emotional support after the diagnosis of the spasms. When counseling parents of infants with Down syndrome, pediatricians should educate about epileptic spasms. If spasms are diagnosed, providing emotional support with frequent follow-up is important. Furthermore, clinicians should monitor for signs of epilepsy and autism spectrum disorder.

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Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation

Brain and Development ◽

10.1016/j.braindev.2015.12.011 ◽

2016 ◽

Vol 38 (6) ◽

pp. 597-600 ◽

Cited By ~ 5

Author(s):

Ayuko Igarashi ◽

Akihisa Okumura ◽

Keiko Shimojima ◽

Shinpei Abe ◽

Mitsuru Ikeno ◽

...

Keyword(s):

Down Syndrome ◽

Focal Seizures ◽

Epileptic Spasms

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Word Prompt Programs

American Journal of Speech-Language Pathology ◽

10.1044/1058-0360.0603.57 ◽

1997 ◽

Vol 6 (3) ◽

pp. 57-65 ◽

Cited By ~ 5

Author(s):

Lisa A. Wood ◽

Joan L. Rankin ◽

David R. Beukelman

Keyword(s):

Learning Disabilities ◽

Current Literature ◽

Word Processing ◽

Computer Software ◽

Written Language ◽

Written Communication ◽

Speech Language Pathologists ◽

Basic Word ◽

The Matrix ◽

Language Needs

Word prompt programs are computer software programs or program features that are used in addition to basic word processing. These programs provide word lists from which a user selects a desired word and inserts it into a line of text. This software is used to support individuals with severe speech, physical, and learning disabilities. This tutorial describes the features of a variety of word prompt programs and reviews the current literature on the use of these programs by people with oral and written language needs. In addition, a matrix that identifies the features contained in eight sample word prompt programs is provided. The descriptions of features and the matrix are designed to assist speech-language pathologists and teachers in evaluating and selecting word prompt programs to support their clients' oral and written communication.

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