Dysmorphic features and developmental outcome of 2‐year‐old children

Abstract

Aim The aim of this study was to assess the associations between dysmorphic features and neurological, mental, psychomotor, and behavioural development in order to improve our understanding of aetiological pathways leading to minor developmental problems. Method In our cross‐sectional study, 272 generally healthy 2‐year‐olds (143 males, 129 females; median gestational age 39 weeks, [range 30–43wks]), born after a parental history of subfertility either with or without fertility treatment, were examined. Dysmorphic features were classified as abnormalities (clinically relevant or not), minor anomalies, or common variants according to Merks' classification system. Hempel's neurological assessment resulted in a neurological optimality score (NOS) and fluency score. Mental and psychomotor development were assessed with the Dutch version of the Bayley Scales of Infant Development and behavioural development with the Achenbach Child Behaviour Checklist. Results Of the different types of dysmorphic feature, clinically relevant abnormalities were most strongly associated with a lower NOS (difference −2.53, 95% confidence interval [CI] −4.23 to −0.83) and fluency score (difference −0.62, 95% CI −1.1 to −0.15). The presence of one or more abnormalities (clinically relevant or not) or one or more common variants was significantly associated with a lower NOS, and the presence of three or more minor anomalies was associated with lower fluency scores. Dysmorphic features were not associated with mental, psychomotor, or behavioural development. Interpretation As dysmorphic features originate during the first trimester of pregnancy, the association between dysmorphic features and minor alterations in neurodevelopment may suggest an early ontogenetic origin of subtle neurological deviations.

Comprehensive evaluation of the child with global developmental delays or intellectual disability

“…Additionally, gait apraxia, kyphoscoliosis, sleep disturbances, episodes of laughter and cream, and a reduced response to pain are other variable characteristics of this disorder. 2,12,23,24) Anomalies affecting the musculoskeletal system, eyes, heart, genitourinary tract, and connective tissues may also be discerned during routine systemic physical examinations, potentially those indicating a specific diagnosis or guiding laboratory investigations. Behavioral assessment provides the basis for describing any atypical pattern of a child's behavior, such as aggression, repetitive and selfinjurious behavior, decreased social engagement, and impulsivity.…”

Osteopathic Evaluation and Positional Plagiocephaly: A Descriptive Study on a Population of Children with ASD

“…In a recent study, Tian and colleagues [29] report that dysmorphisms are more common among individuals with ASD, disability, schizophrenia, hyperactivity than in the typically developing population [23,30,31]; for which they studied the relationships between dysmorphic characteristics in children with ASD and their cognitive and behavioral development. Their data suggest that the presence of dysmorphism is associated with decreased language production and comprehension skills in children with ASD, an association not observed in the control population.…”

Neurological condition assessed with the Hempel examination and cognition and behaviour at 4 years

“…The inter-rater reliability of the Hempel assessment is satisfactory (κ = 0.62-1.00 [mean 0.93]) and its construct validity is good [5,7]. The latter is illustrated by the finding that higher prevalences of MND and lower NOS values are associated with preterm birth [6,27], perinatal asphyxia [28], neonatal hyperbilirubinaemia [29,30], severity of subfertility [22,23], dysmorphic features [31], prenatal and neonatal fatty acid status [32,33], prenatal exposure to polychlorinated biphenyls and dioxins [34] and abnormal general movements at 3 months corrected age [35].…”