title: Speech impairment in Nijmegen breakage syndrome: a rare anomaly.
abstract: The subject of the case study was a 13 years old girl with Nijmegen breakage syndrome (NBS), having mild mental retardation and age inappropriate language skills. The case demonstrated severely delayed receptive and expressive language skills. The symptoms of NBS including congenital microcephaly, mild dysmorphic facial appearance, growth retardation, short stature, mental retardation, chromosome instability, speech and language delay were present in our case. Therefore treatment efforts were directed towards general speech and language stimulation techniques, expanding communicative intentions expressed, strengthening oro-facial musculature for articulatory precision, speech intensity and intelligibility. The client showed relatively better results over a short period of time. The favorable outcome of the present study provides an important example of the beneficial effects of therapy even for clients with poor prognosis.
authors.affiliation: Speech & Hearing Unit, Department of Otolaryngology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Dipti
authors.initials: D
authors.lastname: Gupta
authors.forename: Anu
authors.initials: A
authors.lastname: Nagarkar
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D007807:Language Tests; D049932:Nijmegen Breakage Syndrome / Q000150:complications* / Q000175:diagnosis*; D012720:Severity of Illness Index; D013064:Speech Disorders / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D013070:Speech Therapy