Clinical usefulness and challenges of instrumented motion analysis in patients with intellectual disabilities.

BACKGROUND: Clinical laboratory testing of locomotor disorders is challenging in patients with intellectual disability (ID). Nevertheless, also in this population gait analysis has substantial value as motor problems are common. To promote its use, adequate protocols need to be developed and the impact on clinical decision making needs to be documented. RESEARCH QUESTION: What is the clinical usefulness of instrumented motion analysis in patients with ID? METHOD: This narrative review consists of three parts. A literature review was performed to describe the gait pattern of patients with ID. Next, benefits and challenges of standard gait analysis protocols are described. Finally, a case of a girl with ID due to genetic cause showing gait abnormalities is discussed. RESULTS: The literature review resulted in 20 studies on "gait" in patients with an "ID", published since August, 1st 2013. Gait deviations were observed in all studies investigating the ID population with an underlying genetic syndrome. Observed gait deviations in the ID population might be attributed to physical characteristics, cognitive components or both. The main goal of clinical gait assessment is the identification of gait deviations and the evaluation of their progress over time, in order to optimize the treatment plan. The choice of adequate method and measurement modalities depends on the clinical goal, the available resources and the abilities of the patient. In the case report we presented, we succeeded in performing an instrumented 3D gait analysis in a girl with severe ID at the ages of 4y4m, 6y0m, 7y2m and 8y2m. Progressive gait deviations were found suggesting a crouch gait pattern was developing. Results of the gait analysis led to the prescription of rigid ankle-foot orthoses. SIGNIFICANCE: Gait analysis has substantial value for patients with ID. Gait analysis allows clinicians to objectify the relationship between physical characteristics and gait features.

Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients.

BACKGROUND AND PURPOSE: Dravet syndrome (DS) is a severe, drug-resistant epilepsy. Fenfluramine has been reported to have a long-term clinically meaningful anticonvulsive effect in patients with DS. METHODS: This prospective, open-label study assessed the safety and effectiveness of low-dose fenfluramine in a new cohort of patients with DS. Following a 3-month baseline period, fenfluramine was added to each patient's current antiepileptic drug regimen at a dose of 0.25-1.0 mg/kg/day (max. 20 mg/day). The incidence of major motor seizures (tonic, clonic, tonic-clonic, atonic and myoclonic seizures lasting >30 s) in both the baseline and treatment periods was assessed via a seizure diary. Periodic echocardiographic examinations during the treatment period were used to assess cardiovascular safety. RESULTS: Nine patients (aged 1.2-29.8 years) enrolled in the study and were treated with fenfluramine for a median duration of 1.5 (range, 0.3-5.1) years. Median frequency of major motor seizures was 15.0/month in the baseline period. All patients demonstrated a reduction in seizure frequency during the treatment period with a median reduction of 75% (range, 28-100%). Seven patients (78%) experienced a ≥50% reduction in major motor seizure frequency. The most common adverse events were somnolence (n = 5) and anorexia (n = 4). No evidence of cardiac valvulopathy or pulmonary hypertension was observed. CONCLUSIONS: The effectiveness and safety of low-dose fenfluramine as an add-on therapy for DS in this new prospective cohort supports previous findings.

Pleth variability index combined with passive leg raising-induced pulse pressure variation to detect hypovolemia in spontaneously breathing patients.

The combination of Pleth Variability Index (PVI) and passive leg raising (PLR)-induced pulse pressure variation may help to diagnose hypovolemia in spontaneously breathing patients. In 44 subjects, PVI and Pulse Pressure (PP) variation after PLR were measured before and after induced hypovolemia (blood gift or hemodialysis session). PVI values were significantly greater after hemodialysis session or blood gift (22% vs 18%, P = 0.03); in contrast PP variation did not change significantly (7% vs 4%, P = 0.49). The accuracy of these parameters or of their combination to identify the "after hypovolemia induction" period was weak. In spontaneous ventilation, PVI value is greater after induced hypovolemia, whereas PP variation does not change significantly. The combination of PVI and PLR does not improve the accuracy of the detection of induced hypovolemia.