Symptomatic children included those with symptoms suspicious for IEM including metabolic acidosis, jaundice, hepatosplenomegaly, recurrent vomiting, hypoglycemia, hyperammonemia, mental retardation of unknown cause, language retardation, seizures and unconsciousness.
As Rosa's 11-year old brother Nick said so articulately when President Obama signed Rosa's Law eliminating the words "retarded" and "retardation" from government language, "What you call people is how you treat them".
Clinical features include microcephaly, characteristic hand wringing, autistic features, loss of language, and mental retardation (2).
Abnormalities in language development, mental retardation and epilepsy are observed in autistic children [2,3].
These include subjects with autism spectrum disorders, mental retardation, language delays, hypotonia, hemangiomas, and the VACTERL association.
These include language delays, mental retardation without autism, hypotonia, and hemangiomas.
The phenotype of individuals with NRXN1 deletion is variable and includes autism spectrum disorders, mental retardation, language delays, and hypotonia.
The effects of the disorder are acute and include developmental delay, severe mental retardation, language impairment, seizures and dysmorphic facial features [ 10- 12].
Although currently unexplained, deletions within NRXN1 have been associated with a variety of developmental disorders other than schizophrenia and autism, including mental retardation, language delay and hypotonia (Ching et al., 2010).
Exclusion criteria are: other types of diabetes than Type 1 (e.g. type 2 or MODY), younger than 8 years or older than 15 years at baseline, not speaking the Dutch language, and mental retardation.
Exclusion criteria were as follows: 1) subjects diagnosed with autism, mental retardation, language difficulties or developmental problem including learning difficulties, 2) those with a history of a brain damage or seizure disorders, 3) those without an informed consent form from their parents or guardians.
