Abstract
Velocardiofacial Syndrome (VCFS) can present with many different features. In this paper we review some of these features: working memory deficits, dysmorphic features, co-morbid obsessive compulsive disorder (OCD), early deviant behaviour, functional impairment, and early age of onset of schizophrenia. Some uncommon features found in the five patients studied are discussed. Genetic counselling in these patients and what the future holds in terms of treatment are mentioned. Patients with VCFS can have covert symptoms that can easily be overlooked. For this reason, guidelines to the detection of the abnormalities in these patients are given. The patients whose cases are reviewed are five patients who were diagnosed with VCFS during an ongoing genetic project on the study of schizophrenia in the Afrikaner founder population.
Highlights
Among the many features with which velocardiofacial syndrome (VCFS) may present, we review in this paper the literature on working memory deficits, dysmorphic features, co-morbid obsessive-compulsive disorder, early deviant behaviour, functional impairment, and early age of onset of schizophrenia
pathological laughter and crying (PLC) has not been described in schizophrenia, but we hypothesise that the PLC may be attributed to VCFS and that the same pathways implicated in neurological causes of PLC may be affected in VCFS
New developments in neuro-imaging of infants and children have the potential to improve our understanding of the critical periods in brain development.[48]
Summary
John is the oldest of four siblings. His mother was healthy during pregnancy and he was born by forceps delivery. John has experienced problems with socialisation and has been afraid of the dark since the age of 2 He had academic difficulties from the start of primary school, including problems of daydreaming and concentration that remained throughout his school career. He was diagnosed with attention deficit hyperactivity disorder and treated with methylphenidate. Features that point towards a poor prognosis included early onset of illness, obsessive-compulsive disorder (OCD), working memory deficits, and prominent negative symptoms. He fulfilled all the Bassett criteria for VCFS except history of hypocalcaemia and athymia. Two of his siblings were born with craniostenosis, which has been associated with VCFS
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