Title: Effectiveness of Auditory Evoked Brain Potentials in diagnosis of hyperacusis and phonophobia in a case with Williams Syndrome.
Introduction:
Williams Syndrome (WS) is a neurodevelopmental disorder associated with a hemizygous deletion on chromosome (7)(1), . It is caused by the submicroscopic deletion of 1.5 to 1.8 Mb on chromosome 7q11.23(2), including the general transcription factor ill gene which encodes TFII-I which suppresses cell-surface accumulation of transient receptor potential(3).
WS is characterized by developmental delay in achieving normal childhood milestones, postnatal hypercalcaemia, speech difficulties, hyperacusis, motor co-ordination difficulty, excessively social personality, love of music and expressive language skills(4). Physical features include characteristic facial features with full prominent cheeks, wide mouth, long philtrum, small nose with depressed nasal bridge, heavy orbital ridges, medial eyebrow flare, dental abnormalities(5). …show more content…
Auditory evoked brain potentials are widely employed to test auditory function, and used as an important diagnostic tool in infant hearing screening(8).
Aim to work:
Assess the effectiveness of use of Auditory evoked brain potentials in diagnosis of hyperacusis and phonophobia in Williams Syndrome.
Methods:
By searching PubMed, I found a study where the mothers of 49 subjects with WS were asked to complete the hyperacusis screening questionnaire. Subjects with reported hyperacusis and sufficient developmental capacity underwent comprehensive audiological and brain auditory evoked response testing. Findings were compared with those from pair-matched typically developing control subjects(9).
Introduction:
Williams Syndrome (WS) is a neurodevelopmental disorder associated with a hemizygous deletion on chromosome (7)(1), . It is caused by the submicroscopic deletion of 1.5 to 1.8 Mb on chromosome 7q11.23(2), including the general transcription factor ill gene which encodes TFII-I which suppresses cell-surface accumulation of transient receptor potential(3).
WS is characterized by developmental delay in achieving normal childhood milestones, postnatal hypercalcaemia, speech difficulties, hyperacusis, motor co-ordination difficulty, excessively social personality, love of music and expressive language skills(4). Physical features include characteristic facial features with full prominent cheeks, wide mouth, long philtrum, small nose with depressed nasal bridge, heavy orbital ridges, medial eyebrow flare, dental abnormalities(5). …show more content…
Auditory evoked brain potentials are widely employed to test auditory function, and used as an important diagnostic tool in infant hearing screening(8).
Aim to work:
Assess the effectiveness of use of Auditory evoked brain potentials in diagnosis of hyperacusis and phonophobia in Williams Syndrome.
Methods:
By searching PubMed, I found a study where the mothers of 49 subjects with WS were asked to complete the hyperacusis screening questionnaire. Subjects with reported hyperacusis and sufficient developmental capacity underwent comprehensive audiological and brain auditory evoked response testing. Findings were compared with those from pair-matched typically developing control subjects(9).