Obtain three generation pedigree and details of development of all |
possibly affected individuals |
Obtain a detailed clinical history of maternal health pre-pregnancy |
Pregnancy history |
Birth history and birth height, weight and head circumference |
Developmental milestones and growth rates |
Neonatal PKU and hypothyroidism |
Educational history and IQ |
Examination for dysmorphic features and neurological signs |
Karyotype analysis (550 banded resolution) |
Fragile X |
Telomere screen |
Brain MRI if abnormal neurological findings or head circumference |
indicates microcephaly or macrocephaly |
EEG to assist definition of epilepsy phenotype |
Metabolic screen if clinically indicated. Consider urine and plasma |
screen of creatine/creatinine ratio where indicated and possible. |
Consider free T3 thyroid function tests if spastic paraplegin is present. |