Consensus Clinical Management Guidelines for Alström Syndrome
Orphanet Journal of Rare Diseases
Tahani, N., Maffei, P., et al. (2020).
Orphanet Journal of Rare Diseases, 15(1), 253.
This guideline from the European Alström Syndrome society provides recommendations regarding the care of patients suspected to have or diagnosed with Alström Syndrome (ALMS) of any age.
European Alström Syndrome Society
For patients suspected of having or diagnosed with Alström Syndrome (ALMS), audiological evaluation of both ears should be conducted at the time of diagnosis, then annually thereafter. Assessment may include otology, tympanometry, otoacoustic emissions, auditory brainstem responses, and testing of speech discrimination and speech thresholds (Strong Recommendation; Moderate-quality Evidence).
For patients suspected of having or diagnosed with Alström Syndrome (ALMS) who are deaf-blind, sensorial impairment assessment should include evaluation of communication, social-emotional well-being, mobility, assistive technology, and potential for (re)habilitation (Weak Recommendation; Moderate-quality evidence).
A multidisciplinary team of allied healthcare professionals, preferably with expertise in Alström Syndrome (ALMS), should provide care and follow-up for patients suspected of having or diagnosed with ALMS (Strong Recommendation; Moderate-quality evidence). Patients should be referred to a speech-language therapist during childhood with follow-up yearly, or as required, to assess the impact of sensory differences on communication and social-emotional well-being and to determine the need for assistive technology and/or (re)habilitation.
For patients suspected of having or diagnosed with Alström Syndrome (ALMS) who are diagnosed with hearing loss, hearing devices (e.g., hearing aids, cochlear implants) should be offered when appropriate (Strong Recommendation; Moderate-quality evidence).
