Medical diagnosis: Chromosome 22 deletion syndrome
A 26 yr old female, diagnosed with congenic cardiopathy (was operated for tetralogy of Fallot) delayed motorial learning and speech, cognitive defect, high myopia, facial dysmorphies (narrow rima palpebrarum pointing upwards and externally, tubular nose with hypoplasia of the nostrils, mouth with protruding upper lip, small auricles), ogival palate, hypoplasia of the depressor anguli oris muscle (DAOM), hands with tapering fingers, kyphosis, overweight. Given this is a striking clinical picture for a chromosome 22q11.2 microdeletion syndrome (DiGeorge/ Velocardiofacial Syndrome), it led to closer diagnostic examination by FISH to study the chromosomal region 22q11.2 which confirmed the medical hypothesis.
FISH for the region 22q11.2 carried out on the patient’s parents did not register any anomaly, leading to the deduction that the 22q11.2 microdeletion displayed by the patient's derived “de novo” from two healthy parents. The patient has a 50% risk of transmitting the 22q11.2 microdeletion with every conception. During pregnancy this anomaly is detectable in amniocentesis by FISH examination with specific probes of the 22q11.2 region.
During adolescence the patient also suffered from complications of a psychiatric type as a result of which she attended mental health centre where the following diagnosis was given: sychotic paranoid/depressive type with catatonic-like displays.
Neuropsychological evaluation results: mini mental 26/30
Memory: limited span and visual memory , limited vertebral curve as regards growth and quantity. Sporadic intrusions are indicated. Delayed and very modest retrieval abilities ,no incidental memory
Executive functions: motorial organization at its limits (errors in shifting are corrected),slowed-down Trail A, and Trail B (many errors are corrected), pathologic use of meta-linguistics, minimum learning of word pairs (intrusions, perseverations)
Speech: reduced spontaneous speech made up of sparse sentences with simplified lexicon and syntax, reading and writing are possible, spatial analysis within the norm
Other clinical signs: archaic reflexes are absent.
In conclusion, this exam led to this diagnosis: in a cognitive background at its limits, we point to the presence of attentive-mnesic-executive deficits, likely referable to constitutional difficulties which are exacerbated at the time of the examination both by the pharmacological load as well as the depressive syndrome itself. An attempt is recommended to try and reconstruct the patient’s confidence by making her feel useful, placing her within a social, work and economic context suited to her limits. By contrast, any attempts at the theoretical level seem more marginal, given the age and the reduced introspective abilities connected to the linguistic difficulties mentioned above (the verbal instrument appears per se limited for the implementation of a sufficient self-analysis); they can nonetheless be employed as a form of support.
A short-term hospitalization is indicated for treating moderate pulmonary insufficiency, tetralogy of Fallot which underwent surgical correction.
Finally, the patient was followed by a local psychiatrist and put in therapy with Depakin-chrono. The following analysis was done:
Neurological check-up: focus no-deficit
Psychiatric check-up: the girl approaches the meeting with ease. Her behavior is adequate. She talks about herself and her life. Basic themes emerge which are connected to her sense of loneliness. Her mother expresses her own tiredness and depressive reactions towards the situation.
Evaluation with the rehabilitation therapist: patient displays behavior which is not always adequate to the context. Hindrance is noted in the tests for general dynamic coordination, good understanding of verbal instructions, left-right discernment is acquired, spatial cognition of the body is adequate.
Neuropsychological evaluation: within the scope of total cognitive results that can be deemed as normal, a cognitive profile characterized by drops in lexical production, morpho-syntactic understanding and visual perception skills and visual-motorial integration. Difficulties in verbal memory. The young woman displays a self-devaluating attitude and a low level of self-esteem. It seems important to gratify the patient and allow her to carry out activities that can improve her self-perception. For this purpose it seems important to grant the patient responsibilities both in and out of the house, and allow her carry out transfers and purchases on her own. It seems necessary to place the patient in a work context that could help her forge an adult identity for herself. Bases on these observations, a psychological intervention for the patient and support for her family are suggested.
The patient presents intolerance to antipsychotic medications of a traditional type (haloperidol), and she took Olanzapine and hypno-inducing drugs.