Aim To investigate the cognitive and behavioural phenotype in rare disorders of the Ras/MAPK pathway, namely Noonan, cardiofaciocutaneous (CFC), and Costello syndromes, particularly prevalence of autism spectrum disorder (ASD) and attention‐deficit–hyperactivity disorder (ADHD). Method Fifty children were recruited over 10 months through the regional genetics service and advertisements. A range of parent, child, and observational measures were administered including Autism Diagnostic Interview‐Revised and Autism Diagnostic Observation Scale. Results Using the Collaborative Programme for Excellence in Autism criteria, 12 out of 40 children with Noonan syndrome (30%) showed ASD, and 12 out of 40 (30%) with partial ASD features and 16 out of 40 (40%) showed non‐ASD. The Noonan syndrome ASD group showed male dominance in a ratio of 5:1. In the CFC group, eight out of nine children met the criteria for ASD, with equal sex distribution. Additionally 19 out of 40 (48%) of the Noonan syndrome group and eight out of nine (88.9%) of the CFC group scored met clinical criteria for ADHD. Only one child was in the Costello syndrome group. Interpretation This is the first systematic study to suggest a high prevalence of ASD in Noonan and CFC syndromes, and thus offers crucial evidence to support the importance of the Ras/MAPK pathway in the aetiology of ASD. Limitations include the inevitable possibility of a sampling bias in a rare disorder study of this kind.

This study investigated the psychometrics of a recently developed global rating measure of videotaped parent-infant interaction, the Manchester Assessment of Caregiver–Infant Interaction (MACI), in a normative sample. Inter-rater reliability, stability over time, and convergent and discriminant validity were tested. Six-minute play interactions were blind-rated by trained coders in 147 healthy mother-infant dyads at 3–10 months postpartum using the MACI; 51% were re-assessed 4 or 7 months later. Infant cognitive functioning, language and temperament, parent-reported infant warmth and invasion, parental mood, and the parent’s own recalled experiences of being parented were measured. We report the internal psychometrics of the MACI, evidence of stability as predicted, and inter-rater reliability. MACI caregiver sensitive responsiveness showed convergent validity with parental state of mind (mood at 3–4 months; report of own childhood care and overprotection), while MACI infant affect (but not the caregiver scales) was associated with parent-rated infant warmth. All MACI scales showed discriminant validity with concurrent cognitive and language developmental status, and most temperament dimensions. In conclusion, the MACI demonstrates utility, reliability and preliminary validity data in a normative sample, which complements previous work using the MACI. Follow-up is needed to test predictive validity. The findings inform further improvements to the tool, and may guide those looking for a relatively brief way to examine the global qualities of parent, infant and dyadic interaction.

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