Voice alterations in patients with Morquio A syndrome

Abstract

Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation of glycosaminoglycans (GAGs), including keratan sulfate (KS) and chondroitin-6-sulfate (CS). These compounds infiltrate and disrupt the architecture of the extracellular matrix, compromising the integrity of the connective tissue. Patients with Morquio A have also been noted for exhibiting abnormalities of the larynx and vocal tract. The aim of the study was to assess voice alterations using noninvasive acoustic and electroglottographic voice analysis. Electroglottographic signal and acoustic analyses revealed considerable changes in the voices of patients with Morquio A syndrome when compared to the voices of healthy controls. Affected patients tended toward tense voice, incomplete glottal closure, increased incidence of vocal fold nodules, dysphonia, and hoarse voice. Morquio A syndrome is characterized by connective tissue disease, which adversely affects voice quality. The use of objective voice analysis makes it possible to quantitatively monitor changes in the vocal apparatus over the course of disease progression, and also allows for assessment of the effects of the enzyme replacement therapy.

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Evaluation of afferent pain pathways in adrenomyeloneuropathic patients

X-linked adrenoleukodystrophy (ALD) is an inherited disorder of peroxisomal metabolism characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in the brain, adrenal cortex and plasma. It is caused by mutations in the ABCD1 gene, which encodes an adenosine triphosphate-binding cassette peroxisomal transporter, involved in the import of VLCFA into the peroxisome for degradation (Moser et al., 2004). There is an evident wide range of phenotypic variability: childhood, adolescent and adult cerebral forms of ALD, adrenomyeloneuropathy (AMN), Addison's disease only and presymptomatic or asymptotic phenotype (Moser, 1997).

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Sleep patterns associated with the severity of impairment in a large cohort of patients with chronic disorders of consciousness

Brain injury due to severe anoxic, hemorrhagic or traumatic events often lead to chronic disorders of consciousness (DOCs), which have recently received increasing attention because of growing medical and ethical concerns relating to patient management. A considerable proportion of survivors of severe brain damage enter an unresponsive wakefulness syndrome/vegetative state (UWS/VS) or minimally conscious state (MCS) (Laureys et al., 2010) and a number of studies have assessed more or less extensive series of DOC patients using imaging procedures or neurophysiological evaluations designed to provide information supporting the clinical assessment of different degrees of DOCs or to identify prognostic markers (see reviews by Bender et al., 2015; Kondziella et al., 2015).

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Automatic bad channel detection in intracranial electroencephalographic recordings using ensemble machine learning

Intracranial electroencephalographic (iEEG) recordings, either from depth electrodes (stereoelectroencephalography, SEEG) (Kahane and Dubeau 2014) or from subdural grids and strips (electrocorticography, ECoG) (Fernández and Loddenkemper 2013), are used to localize the epileptogenic zone in some patients with drug-resistant focal epilepsy where other non-invasive measures are limited. These techniques permit to collect prominent data for assessing brain dynamics in pathological and physiological conditions.

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Can clinical neurophysiology assist in patient selection for DBS in pediatric dystonia?

Globus pallidus internus (GPi) deep brain stimulation (DBS) has become established as an effective treatment for disabling, medically refractory generalized, segmental and focal dystonia (Coubes et al., 2004; Vidailhet et al., 2005; Kupsch et al., 2006; Volkmann et al., 2014). The greatest improvement in dystonia after GPi DBS occurs in isolated idiopathic or genetic (primary) dystonia, which respond better than acquired (secondary) dystonia (Eltahawy et al., 2004; Andrews et al., 2010; Vidailhet et al., 2009; Vidailhet et al., 2013).

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Neurophysiological correlates of word processing deficits in isolated reading and isolated spelling disorders

In English speaking countries, developmental dyslexia (DD) is primarily defined as a reading disorder which is characterized by deficits in word reading accuracy, that are frequently accompanied by spelling problems. The association between reading and spelling deficits is in line with theories of literacy development that generally assume a close, bidirectional relationship between reading and spelling development (e.g. Frith, 1985), with correlation scores of .77-.86 between the two domains (for a review see Ehri, 1997).

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Abnormal cortical brain integration of somatosensory afferents in ALS

Amyotrophic Lateral Sclerosis (ALS) is an adult-onset neurodegenerative condition characterized by the loss of motor neurons at cortical, brainstem and spinal levels (Kiernan et al., 2011). ALS is widely considered as a pure motor degeneration; sensory impairment is not a recognised feature of ALS or regarded as secondary to motor impairment (Fincham and Van Allen, 1964; Feller et al., 1966; Schulte-Mattler et al., 1999). However, in addition to the 10 % patients describing frank paraesthesia and neuropathic pain, sensory impairments have been reported in up to 60 % patients, including abnormal vibration, cutaneous and heat thresholds.

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