Table 1.

Demographics and clinical features of the ASD/SPAD children

Case	Age1 (yr)	Race	Sex	Immuno-deficiency Diagnosis	Autism Diagnosis	Infection	Other co-morbidities and medications3
#14	13	W	M	SPAD5	Regressive autism	CRS, ROM	Chronic enterocolitis, asthma fluoxetine, montelukast,
#24	11	W	M	SPAD	Regressive autism	CRS, ROM	Seizure disorder7, Chronic enterocolitis levetiracetam, montelukast, loratadine,
#34	8	W	M	SPAD	Regressive autism	CRS	Chronic enterocolitis, allergic rhiniconjunctivitis fluoxetine, montelukast, cetirizine, mometasone nasal inhaler
#44	9	W	M	SPAD	PDD-NOS (regressive)	ROM	Seizure disorder valproic acid, L-carnitine, CQ10
#52,4	14	W	F	SPAD	Regressive autism	CRS, ROM,	Seizure disorder, Chronic enterocolitis, asthma montelukast, desloratadine, minocycline (for acne), lorazepam
#6	16	W	M	SPAD	Regressive autism	CRS	Asthma, chronic enterocolitis Steroid oral inhaler, nasal inhaler, guanfacine
#7	7	W	F	SPAD	PDD-NOS (regressive)	CRS, ROM	Seizure disorder montelukast, nasal inhaler, levetiracetam, azithromycin (prophylaxis)
#8	6	mixed	M	SPAD6	Regressive autism	COM	guanfacine, risperidone, benzatropine

¹ Ages at the time of SPAD diagnosis. It should be noted that Case #1 and Case #2 were followed up in the clinic for 2-3 yrs prior to SPAD diagnosis but their initial laboratory values were not consistent with SPAD diagnosis. Their clinical features progressed over 2-3 yrs to fulfill the diagnosis of SPAD.

² This patient developed anti-phospholipid syndrome 5 yrs after being treated with IVIG.

³ Co-morbidities present at the time of presentation and medications at the time of sample obtainment.

⁴ Positive history of food protein induced enterocolitis syndrome (FPIES)

⁵ Abbreviations used: COM (chronic otitis media), CRS (chronic rhinosinusitis), PDD-NOS (pervasive developmental disorder, not otherwise specified), ROM (recurrent otitis media), SPAD (specific polysaccharide deficiency), and W (Caucasians)

⁶ This patient also revealed low IgG levels but did not fall into the diagnostic criteria for common variable immunodeficiency; immunoglobulin levels of 2 isotypes are lower than two standard deviations of mean values of age-appropriate controls.

⁷ In Case #2 and Case #7, a main trigger of seizure activities has been respiratory infection. In Case#7, onset of seizure clusters were almost always triggered by respiratory infection prior to IVIG treatment. After implementation of IVIG treatment, no clinical seizures have been observed in case #2. In case #7, seizure activity appears to be not associated with infection any more after starting IVIG treatment and prophylaxis doses of azithromycin (3 times per week).