Deletion syndrome 22q13

what the dentist should know to manage children with Phelan-McDermid syndrome effectively.

Chris Ivanoff, Athena E. Ivanoff

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Deletion Syndrome 22q13 (or Phelan-McDermid Syndrome) is a very rare genetic disorder characterized by general neonatal hypotonia, absent to delayed speech, and global developmental delays. With only 600 cases reported worldwide, the disease remains largely under-diagnosed, but diagnosis is on the rise. Current thinking suggests that 22q13 Deletion Syndrome may be one of the principal causes of idiopathic mental retardation. Patients with Phelan-McDermid Syndrome, especially children, can be a challenge for dental professionals, as it is often associated with autism. Dentists see patients with all kinds of special needs, developmental conditions and disabilities. Children with Phelan-McDermid Syndrome need dental care just like every other child. As with other autism-related disorders, children with Phelan-McDermid Syndrome need sameness and continuity in their environment. The dental literature, however, offers very little information to aid the dentist in the management of these children. This article aims to make dentists aware of the disorder and provides tips and recommendations that dentists may find helpful to manage Phelan-McDermid children more effectively.

Original languageEnglish (US)
JournalThe Journal of the Tennessee Dental Association
Volume94
Issue number1
StatePublished - 2014

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Dentists
Autistic Disorder
Tooth
Developmental Disabilities
Inborn Genetic Diseases
Muscle Hypotonia
Dental Care
Intellectual Disability
Telomeric 22q13 Monosomy Syndrome

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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title = "Deletion syndrome 22q13: what the dentist should know to manage children with Phelan-McDermid syndrome effectively.",
abstract = "Deletion Syndrome 22q13 (or Phelan-McDermid Syndrome) is a very rare genetic disorder characterized by general neonatal hypotonia, absent to delayed speech, and global developmental delays. With only 600 cases reported worldwide, the disease remains largely under-diagnosed, but diagnosis is on the rise. Current thinking suggests that 22q13 Deletion Syndrome may be one of the principal causes of idiopathic mental retardation. Patients with Phelan-McDermid Syndrome, especially children, can be a challenge for dental professionals, as it is often associated with autism. Dentists see patients with all kinds of special needs, developmental conditions and disabilities. Children with Phelan-McDermid Syndrome need dental care just like every other child. As with other autism-related disorders, children with Phelan-McDermid Syndrome need sameness and continuity in their environment. The dental literature, however, offers very little information to aid the dentist in the management of these children. This article aims to make dentists aware of the disorder and provides tips and recommendations that dentists may find helpful to manage Phelan-McDermid children more effectively.",
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N2 - Deletion Syndrome 22q13 (or Phelan-McDermid Syndrome) is a very rare genetic disorder characterized by general neonatal hypotonia, absent to delayed speech, and global developmental delays. With only 600 cases reported worldwide, the disease remains largely under-diagnosed, but diagnosis is on the rise. Current thinking suggests that 22q13 Deletion Syndrome may be one of the principal causes of idiopathic mental retardation. Patients with Phelan-McDermid Syndrome, especially children, can be a challenge for dental professionals, as it is often associated with autism. Dentists see patients with all kinds of special needs, developmental conditions and disabilities. Children with Phelan-McDermid Syndrome need dental care just like every other child. As with other autism-related disorders, children with Phelan-McDermid Syndrome need sameness and continuity in their environment. The dental literature, however, offers very little information to aid the dentist in the management of these children. This article aims to make dentists aware of the disorder and provides tips and recommendations that dentists may find helpful to manage Phelan-McDermid children more effectively.

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