Teaching children with Niemann-Pick disease

Abstract

Niemann-Pick Disease (NPD) is a group of rare inherited disorders that are both systemic and degenerative. Knowledge of the disease, its characteristics, and its progression are essential for the teacher and related service personnel to provide an appropriate educational experience for the student. For the teacher who has a student with NPC 1 in his/her classroom, the focus is two-fold: first to provide a supportive academic environment for the student with NPC 1 and her/his classroom peers; and, second, to provide emotional support for the student and the family. Included in this manuscript are suggested accommodations for the teacher and other therapists and related service personnel to use in providing an appropriate education for a student with NPC 1 .

Depression and Anxiety in Pediatric Patients with Beckwith–Wiedemann Syndrome: A Pilot Study

“…BWS is mainly characterized by excess growth and development of some organs and tissues, such as the tongue, internal organs and extremities [ 1 ]. This condition can pose physical and emotional challenges for patients and their families [ 9 , 22 ]. Confirming this, our results reported a significant level of parental burden.…”

“…BWS poses clinical difficulties. For this disease there are no large case studies to draw on, there may be no specific therapies and diagnostic tests and even just getting the diagnosis is a tortuous and long journey [ 22 ]. There is almost never an effective cure but the possible interventions address the symptoms to improve the quality of life [ 22 ].…”

Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea

“…There are approximately 500 NP-C cases diagnosed worldwide; however, the actual number of patients with NP-C is believed to be much higher ( 9 ). This is the first adolescent- or adult-onset NP-C case report in Korea.…”

Lysosomal storage disorders.

“…Students found eligible for special education receive an individualized education program that ensures specialized instruction and related services. To address the effects of short-term memory loss and motor impairments in students with an LSD, a peer may be designated as a scribe for this student, written assignments should be substituted with nonwritten assignment options, and frequently used items should be labeled for when memory fails (Gartin et al, 2013). The student will likely need to work with an occupational therapist due to regression in motor skills.…”

“…The student will likely need to work with an occupational therapist due to regression in motor skills. In the classroom, teachers can accommodate the loss in motor skills by ensuring that larger walking paths are available and providing extra transition times for the student (Gartin et al, 2013). A speech-language pathologist also may be needed as some students experience dysarthria (i.e., when the muscles around the mouth impair the student from forming words) and aphasia.…”