Background
Case presentation
Case 1
Patient 1 | Patient 2 | |
---|---|---|
ADOS (module 4) | ||
Age at evaluation (months) | 24 | 28 |
Communication (cut-off autism = 4, ASD = 2) | 2 | 4 |
Social interaction (cut-off autism = 7, ASD = 4) | 13 | 6 |
Total communication + social (cut-off autism = 12, ASD = 7) | 15 | 10 |
Imagination | 5 | 2 |
Restricted behaviors and interests | 2 | 4 |
ADOS diagnosis | Autism | Autism |
Final research diagnosis | Autism | Autism |
Case 2
Discussion and conclusions
Features | Patient 1 | Patient 2 | 1[8] | 2[19] | 3[19] | 4[25] | 5[17] | 6[17] | 7[17] |
Sex | M | M | M | M | M | M | M | M | M |
Age (months) | 24 | 28 | 96 | 48 | 60 | 216 | 72 | N/A | 84 |
Mutation | Nonsense | Missense | Nonsense | Nonsense | Nonsense | Nonsense | Nonsense | Missense | Missense |
Nucleotide/Protein | c.2647C > A/p.E883X | c.1677C > A/p.M559I | c.3712C > T/p.Q1238 | c.185C > G/p.S62 | c.4009C > T/p.R1337 | c.6518C > A/p.S2173 | c.2729G > A/p.R910Q | c.3340G > T/p.E1114 | c.5129G > T/p.G1710 V |
Inheritance | dn | dn | dn | dn | N/A | N/A | dn | N/A | Inherited Maternal |
Developmental delay | + | + | + | + | + | – | + | N/A | + |
Intellectual disability | + | + | + | – | – | – | + | N/A | N/A |
Verbal IQ | N/A | N/A | 20 | 75 | 79 | N/A | 27 | N/A | N/A |
Non-verbal IQ | N/A | N/A | 34 | 78 | 92 | N/A | 41 | N/A | N/A |
Autism | + | + | + | + | + | Schizophrenia | + | Intellectual disability | + |
Macrocephaly | + | – | + | – | + | N/A | + | N/A | – |
Gastrointestinal | + | + | + | + | + | – | + | N/A | – |
Constipation Abdominal pain | Chronic constipationand loose stool | Constipatio Diarrhea | Constipatio Diarrhea | ||||||
Features | 8[17] | 9[26] | 10[27] | 11[28] | 12[29] | 13[29] | 14[29] | 15[29] | 16[29] |
Sex | M | M | M | M | N/A | N/A | N/A | N/A | N/A |
Age (months) | 204 | 36 | 264 | 96 | N/A | N/A | N/A | N/A | N/A |
Mutation | Missense | Nonsense | Missense | Missense | Missense | Missense | Missense | Missense | Nonsense |
Nucleotide/Protein | c.5390G > A/p.R1797Q | c.5500C > T/p.R1834 | c.2230G > A/p.V744I | c.3979G > A/p.E1327K | c.856C > T/p.R286C | c.6472C > T/p.R2158C | c.6538C > T/p.R2180C | c.6830G > C/p.G2277A | c.6941G > A/p.R2314Q |
Inheritance | Inherited Patenal | dn | dn | dn | N/A | N/A | N/A | N/A | N/A |
Developmental delay | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
Intellectual disability | _ | + | + | + | N/A | N/A | N/A | N/A | N/A |
Verbal IQ | 76 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
Non-verbal IQ | 95 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
Autism | + | + | + | – | + | + | + | + | + |
Macrocephaly | – | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
Gastrointestinal | + | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
Diarrhea Constipation |