Dysphagia and language impairment in King-Denborough Syndrome

INTRODUCTION
King-Denborough syndrome is an autosomal dominant or sporadic genetic disorder characterised by malignant hyperthermia and a collection of phenotypical characteristics including short stature, skeletal abnormalities and facial dysmorphia (King et al. 1972, Graham et al. 1998). Speech and language disorder and dysphagia have not previously been reported as features of this syndrome.

METHOD
This paper presents two detailed case studies which describe the assessment and treatment of two brothers, Haider and Bilal presenting with the syndrome. Both children experienced communication impairments and the older brother has subsequently presented with progressive swallowing difficulties in his teenage years. The children come from a Pakistani heritage home where Mirpuri is spoken in addition to English.

FINDINGS
Aged 3;0 Haider* was referred to speech and language therapy by the Paediatrician. Assessment showed that he was only using single word nouns in English and two-word combinations (verb + patient) in Mirpuri. Audiology reported hearing within normal limits and the Educational Psychology Service reported average non-verbal abilities. A diagnosis of language impairment (LI) was made and Haider was offered a place at the local language unit. At this time it was recognised that he had subtle gross motor difficulties and deformity of the spine and sternum. Haider was discharged from the speech and language therapy service aged 7;1 as his communication skills were satisfactory. King-Denborough syndrome was not diagnosed until age 10;0 following a malignant hyperthermia episode during surgery: a reaction to anaesthesia which is a recognised feature of this syndrome.
Haider was re-referred by the Paediatrician aged 13;0 with dysphagia. Haider reported a one year history of painful swallowing and nausea. He had a recent chest infection, was coughing at night and had lost weight. A videofluoroscopy showed fluids were spilling into the pharyngeal area. Haider was using a chin-tuck to clear the bolus from the oral cavity. Repeated swallows indicated fatigue leading to an uncoordinated swallow. A gastrostomy was discussed but rejected by Haider. Currently Haider remains under the care of the multidisciplinary team.
Aged 3;4 Bilal* was referred to speech and language therapy by the Community Paediatrician. At this time the speech and language therapist discussed the possibility that Bilal had the same syndrome as his older brother. This was confirmed following genetic tests. Bilal was able to follow simple instructions, had no recognisable words and some vocalisations. A diagnosis of LI was made and Bilal attended the language unit. Hussain continues to require speech and language therapy and has not as yet presented with any dysphagia.
*(Names have been changed to protect anonymity).

CONCLUSIONS
This paper will present the first evidence of language impairment and dysphagia as features of King-Denborough syndrome, expanding the existing evidence base. Additionally it will demonstrate that intervention for minority language children is effective when delivered in their mother tongue, regardless of the initial severity of the presenting disorder. Both children now have bilingual language skills which match their non-language impaired peers.

REFERENCES
GRAHAM, G.E., SILVER, K., ARLET, V., and DER KALOUSTIAN, V. HUSSAIN., 1998, King syndrome: further clinical variability and review of the literature. American Journal of Medical Genetics, 78, 254-259.
KING, J.O., DENBOROUGH, HUSSAIN. A. and ZAPF, P.W., 1972, Inheritance of malignant hyperpyrexia. The Lancet, February 12, 1972, 365-370.