A comprehensive assessment of apraxia should include formal testing, standardized measurements of ADLs, observation of daily routines, self-report questionnaires, and targeted interviews with the patients and their relatives.As stated above, apraxia should not be confused with aphasia (the inability to understand language); however, they frequently occur together. Apraxia is so often accompanied by aphasia that many believe that if a person displays AOS, then the patient also having some level of aphasia should be assumed. Treatment
Treatment for individuals with apraxia includes speech therapy, occupational therapy, and physical therapy. Currently, no medications are indicated for the treatment of apraxia, only therapy treatments. Generally, treatments for apraxia have received little attention for several reasons, including the tendency for the condition to resolve spontaneously in acute cases. Additionally, the very nature of the automatic-voluntary dissociation of motor abilities that defines apraxia means that patients may still be able to automatically perform activities if cued to do so in daily life. Nevertheless,  patients experiencing apraxia have less functional independence in their daily lives, and that evidence for the treatment of apraxia is scarce. However, a literature review of apraxia treatment to date reveals that although the field is in its early stages of treatment design, certain aspects can be included to treat apraxia.One method is through rehabilitative treatment, which has been found to positively impact apraxia, as well as ADLs. In this review, rehabilitative treatment consisted of 12 different contextual cues, which were used to teach patients how to produce the same gesture under different contextual situations.
Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.Autosomal recessive inheritance means the defective gene responsible for the disorder is located on an autosome, but two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.PAX6 gene analysis can also be helpful to distinguish between autosomal dominant aniridia and Gillespie syndrome. However atypical Gillespie syndrome is associated mutation with PAX6 gene.To elucidate the underlying genetic defects karyotyping and the search for de novo translocations especially of chromosome X and 11 should be performed.This condition is caused by mutations in the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene. This gene is located on the short arm of chromosome 3 (3p26.1). Mutations in this gene have also been associated with spinocerebellar ataxia type 15 and 29. Diagnosis
Brain MRI shows vermis atrophy or hypoplasic. Cerebral and cerebellar atrophy with white matter changes in some cases. Treatment
History
1964 – GILLESPIE FD first described in two siblings with aniridia, cerebellar ataxia, and mental retardation. 1971 – Sarsfield, J. K. described more cases in a family with normal NCV and muscle biopsy.