Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?

BACKGROUND: Mucolipidosis type IV (ML-IV) is a rare autosomal recessive lysosomal storage disorder which presents with nonspecific developmental delay. Nowadays with the use of new tools such as next generation sequencing, more ML-IV affected patients are diagnosed. Still, identifying the behavioral phenotype might be of help for early diagnosis and anticipatory guidance, as well as for counseling of the families. OBJECTIVE: Identification of the behavioral characteristics of 12 ML-IV patients, aged from 2.5 to 34 years, based on their caregivers' observations. METHODS: The information was gathered from the patients' parents using an extensive semi-structured interview especially designed for this study. Each interview lasted approximately three hours. RESULTS: Patients were uniformly described as friendly and show explicit pleasure from both social interactions and music. They all presented delays in psychomotor development, while their general health was reported as good. Parents reported that the patients present deterioration of motor and communication skills over the years. Episodes of ocular pain, with ipsilateral flushing of the face and tearing were frequently reported, as was shortening of the Achilles tendon. Since the identification of the ML-IV gene, diagnosis is made earlier in life. CONCLUSION: We suggest that ML-IV be considered in the differential diagnosis of patients with developmental delay, who present the behavioral phenotype reported here. This pattern could also be useful for the ancitipatory guidance in the care of ML-IV affected patients. Further clinical research is warranted to confirm these preliminary findings.

Beliefs and emotional reactions in patients with benign paroxysmal positional vertigo: a longitudinal study.

OBJECTIVE: Psychologic studies in patients with benign paroxysmal positional vertigo (BPPV) are scarce, considering the high frequency of the disorder. We performed a repeated-measures design questionnaire study in a cohort of patients with BPPV before and after treatment to investigate the dynamics of the psychologic findings and possible treatment consequences. METHODS: Thirty-seven consecutive patients with idiopathic BPPV participated in the study. During the first visit and 2 to 3 months after therapy, the patients completed 4 questionnaires: the Dizziness Handicap Inventory, the Illness Perception Questionnaire-Revised, the Intolerance of Uncertainty Scale, and the State-Trait Anxiety Inventory. RESULTS: The scores for all questioned items did not change before and after treatment except for the physical handicap scores. Correlation was found between the grade of functional and emotional impact of the disease and belief in consequences as well as anxiety levels of the patients. Moreover, uncertainty scores were in correlation with emotional impact, anxiety levels, and perceived consequences of the disease. The belief in personal control of the condition was correlated with the belief in treatment control and understanding of the disease. CONCLUSION: The main finding in this study is the lack of a significant change in beliefs and emotional reactions in patients with BPPV after treatment of their condition. Physicians dealing with BPPV should be aware that the disease is not solely a somatic condition but has a serious impact on the patient's mental state. Selected patients might benefit from anxiolytic medication.

Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.

Anderson-Fabry disease (AFD) is an X-linked inherited lysosomal storage disorder disease caused by a deficiency in the activity of the alpha-galactosidase enzyme. We investigated neuropsychological and psychiatric function in AFD patients. We studied 16 AFD patients, aged 7 to 61 years. Intelligence, language, vision-spatial abilities, memory, sensorimotor abilities, and attention and executive functions were tested with a computerized test battery as well as standard paper and pencil tests. The results were compared to known age-based norms. In addition, all patients were screened for lifelong DSM-IV Axis-I and Axis-II psychiatric diagnoses, and 4 were interviewed by a psychiatrist. Performance on most cognitive measures was within average range. All measures of information processing speed were significantly reduced, as were some measures of executive functions. Ten out of 16 patients met DSM-IV criteria for Axis I or Axis II diagnoses at some point in their lives. This preliminary study delineates a psychiatric and cognitive phenotype in AFD patients and contributes to the growing field of characterizing behavioral phenotypes of patients with genetic diseases. We suggest that psychiatric and neuro-psychological evaluation be included in the patient's evaluation.