Table 2
Phenotype analysis
| AU012503 | AU012504 | AU024703 | AU024704 | |
| Mutation | M260V | M260V | E177A | E177A |
| Sex | Male | Female | Male | Male |
| Ethnicity | Non-Hispanic | Non-Hispanic | Non-Hispanic | Non-Hispanic |
| Race | White | White | White | White |
| ADI-R | ||||
| Age (years) at ADI-R | 10 | 7 | 6 | 3 |
| Social domain | 11 | 19 | 24 | 9 |
| Communication-verbal domain | 17 | 13 | 20 | 16 |
| Restricted, repetitive behavior domain | 11 | 12 | 5 | 3 |
| Classification | Autism | Autism | Autism | NQA |
| Age of 1st words (months) | 12 | 12 | 48 | 36 |
| Age of 1st phrases (months) | 16 | 14 | 54 | 38 |
| Any language regression | No | No | No | No |
| Overall level of language | Phrase speech | Phrase speech | Phrase speech | Phrase speech |
| Any regression of other skills | No | H, P, SH, M | No | No |
| Anxiety | None | + | None | + |
| Aggression | +++ | +++ | + | + |
| Overactivity | + | + | + | + |
| History of seizures | No | Possible | No | No |
| Age first steps (months) | 14 | 11 | 11 | 13 |
| Gait | Abnormal | Abnormal | Hx abnormal | Unusual |
| Coordination impairment (Gross/Fine) | GF | GF | None | GF |
| Savant skills | Memory | Drawing | Drawing | – |
| ADOS classification | Spectrum | Autism | Autism | Autism |
| Physical measures and abnormalities | ||||
| Age (years) at physical examination | 12 | 10 | 7 | 5 |
| Birth weight (g) | 4309 | 3600 | 3374 | 2920 |
| Height (cm) | 154.9 | 139.7 | 50 | – |
| Percentage | 61 | 42 | <3 | |
| Weight (kg) | 80 | 31.8 | – | – |
| Percentage | 97 | 29 | ||
| Head circumference (cm) | 57.7 | 51.8 | – | 49.4 |
| Head circumference (%) | 98 | 53 | – | 27 |
| Ear length (cm) | 6 | 5.7 | 5.5 | 5.1 |
| Functioning/psychiatric | ||||
| Age (years) at IQ testing | 12 | 10 | 7 | 5 |
| Verbal IQ | 126 | – | – | – |
| Non-verbal IQ | 94 | 107 | 110 | – |
| Depressive symptoms | No | Yes | No | No |
| OCD symptoms | Yes | Dx | Yes | No |
| Other diagnosis | Anxiety, ADHD | Bipolar, ADHD | ||
| Stimulants (current) | Adderal | |||
| Other medications (current) | Paxil, risperidone | Depakote, clonidine | Naltrexone | none |
| ADHD | Dx | Dx | Yes | Yes |
| Sleep problems | 0–1 yo | 0–1 yo | 1–2 yo | Missing |
| Asst. reproduction | None | None | None | None |
| Handedness | Right | Right | Right | Right |
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ADHD, attention deficit hyperactivity disorder; ADI-R, Autism Diagnostic Interview-Revised; ADOS, Autism Diagnostic Observation Schedule; H, loss of purposive hand use; M, motor; NQA, not quite autism; OCD, obsessive–compulsive disorder; P, play and imagination; SH, self help.
