Following this neonatal decompensation she showed a severe global development delay, severe generalized spastic tetraparesis, myoclonic epilepsy, and HCM.
His situation was complex, as is often the case for people who fall into the gray space between severe intellectual disability and borderline development delay.
Although Takkin had been found to have development delay and fairly severe A.D.H.D. at a young age, he had managed to lead a "normal" life well into his teenage years.
Although other clinical features than those of the peripheral neuropathy usually dominate the phenotype, severe demyelinating neuropathy leading to motor development delay may be observed as the initial and only clinical sign in these disorders (Wilmshurst et al., 2003; Ryan and Ouvrier, 2005; Scherer, 2006; Landrieu et al., 2011).
However, she has a slight development delay.
During the first four years of life, developmental scores in 10 children ranged from above average development to severe developmental delay; they were influenced by the type of intelligence test used, severity of motor problems, speech/language difficulties and age at start of therapy.
One child had severe mental delay with normal motor development.
They had severe developmental delay from the outset and showed little evidence of development during infancy.
Severe developmental delay will be defined on the revised Bayley Scales of Infant Development (BSID-II) [ 28] as a Mental Development Index (MDI) score <70 (>2 SD below mean of 100) [ 28].
IQ testing using Kent Infant Development Scale confirmed severe developmental delay and regression (at the ages of 18, 32, 68, and 108 months, her development was conform 7, 8, 12, and 9 months, respectively).
6 The DINO trial showed that although mean cognitive development at 18 months' corrected age (CA) was not altered overall, the proportion of infants with severe developmental delay was significantly reduced.
