Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome

Table 1 Demographic information, physical features and medical information ^a

Characteristics	Patient 1	Patient 2
Demographics
Sex	M	M
Age (yr; mo)	17;6	19;2
Age autistic disorder reported by a professional (yr; mo)	0;11	2;11
Age at referral to an autism center (yr; mo)	3;6	5;9
Age at WBS diagnosis (yr; mo)	17;6	19;2
Clinical genetic examination and physical features
Birth height	45 cm	48 cm
Birth weight	1,680 g	3,080 g
Birth head circumference	30 cm	33.5 cm
Current height	160 cm	161 cm
Current weight	44.2 kg	47 kg
Current head circumference	50 cm	53 cm
Heart defect^b	Mild PS	None
Infantile hypercalcemia	No	No
Kidney abnormalities	None	None
Developmental anomalies	Bilateral inguinal hernia and ectopic testis	Bilateral inguinal hernia and cutaneous cysts
Facial dysmorphism	Typical WBS features	Typical WBS features
Walking^c	Unstable	Unstable
Neurological examination	Unremarkable	Brisk reflexes

^aPS pulmonary stenosis, WBS Williams-Beuren syndrome. ^bFor patient 1, a heart murmur was detected at 3 weeks old, and the diagnosis of mild PS was made by cardiologists; for patient 2, a systolic heart murmur was detected at 1 year old, but there was no heart defect. ^cPatient 1 had an abnormal gait, needed assistance to maintain balance when standing upright and required hand-holding when walking uphill or downhill; patient 2 also had balance disturbances and an abnormal gait (head forward and bent back like his father and brother).

ISSN: 2040-2392