Oral health status in patients with mucopolysaccharidoses

Ballıkaya, Elif; Eymirli, Pınar Serdar; Yıldız, Yılmaz; Avcu, Nihal; Sivri, Hatice Serap; Uzamış-Tekçiçek, Meryem

doi:10.24953/turkjped.2018.04.007

Cited by 13 publications

(26 citation statements)

References 20 publications

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“…This is due to MPS IVA patients having shorter necks, as the cervical spine in the C1-C7 region stops growing earlier than the head [6]. Notwithstanding this, the head has a tendency towards vertical growth, leading to dolichocephalic facial shape [24].…”

Section: Discussionmentioning

confidence: 99%

Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature

Różdżyńska-Świątkowska

Szklanny

Marucha

et al. 2020

Preprint

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Background: Morquio A syndrome, or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. The aim of this study was to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. Diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with increasing age as a result of relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with ratio of chest depth and chest width was significantly above the norm. The head and neck were relatively elongated in comparison to body height and tucked between narrow shoulders. The head was narrow and elongated, while the nose was short with wide nostrils. Conclusions: Multiple measurements – including age ranges – allowed the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

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Section: Discussionmentioning

confidence: 99%

Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature

Różdżyńska-Świątkowska

Szklanny

Marucha

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…This is due to MPS IVA patients having shorter necks, as the cervical spine in the C1-C7 region stops growing earlier than the head [7]. Notwithstanding this, the head has a tendency for vertical growth, leading to a dolichocephalic facial shape [25]. Overall, the imbalance of growth is the most characteristic feature in MPS IVA [26].…”

Section: Discussionmentioning

confidence: 99%

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

Różdżyńska-Świątkowska

Szklanny

Marucha

et al. 2020

Diagnostics

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Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. This study aimed to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. The diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with age as a result of the relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with the ratio of chest depth to chest width being significantly above the norm. The head and neck were relatively elongated, in comparison to body height, and tucked between narrow shoulders. The head had dolichocephalic shape, while the nose was short with wide nostrils. Conclusions: Multiple anthropometric measurements, including age ranges, allowed for the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

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“…There are several clinical manifestations of MPS that may cause impairments in smell and/or taste, i.e. adenoid hypertrophy, chronic rhinosinusitis, recurrent upper respiratory tract infections, thickened nasal cartilages, macroglossia, dental defects (such as dental caries, gingival inflammation, enamel hypoplasia, unerupted teeth, hyperplastic tooth follicle, anterior open bite, and condylar defects), and possibly neurodegenerative disease [5,[24][25][26]. In addition, continuous upper airway infection can cause chronic production of infected mucus, altering smell and taste.…”

Section: Smell and Tastementioning

confidence: 99%

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

Giugliani

Harmatz

Lin

et al. 2020

Orphanet J Rare Dis

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Background: The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multiorgan and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision, smell, taste, and touch. Main body of the abstract: On 24-26 May 2018, 46 specialists with expertise in managing symptoms of MPS and experts specialized in evaluating and managing impairments in each one of the five senses gathered in Lisbon, Portugal at the "MPS & the five senses" meeting to discuss how loss of one or multiple senses can affect activities of daily living (ADL) and quality of life (QoL) in MPS patients and best practices in evaluating and managing the loss of senses in these individuals. The meeting confirmed that MPS can affect the senses considerably, but how these impairments affect ADL and overall QoL from a patient's perspective remains unclear. A better insight may be achieved by prospectively collecting patient-reported outcome (PRO) data internationally in a standardized way, using a standard battery of tools. To identify relevant PRO tools, a systematic literature review and a selection of existing published questionnaires, focused on adults with no intellectual delay, were performed after the meeting. The search strategy identified 33 PRO tools for hearing, 30 for speech, 125 for vision, 49 for touch (including pain and upper limb function), and 15 for smell/taste. A further selection was made based on several criteria, including applicability/relevance for MPS, applicability in different countries (languages)/cultures, availability in English, ease of use, validation, and normative data, resulting in a final set of 11 tools. In addition to these sense-specific PRO tools, a general QoL tool, the EuroQol (EQ)-5D-5 L, was selected to assess overall QoL and reveal coping behaviors. Short conclusion: MPS can affect each of the five senses, but current knowledge on the impact of sense impairments on QoL/ADL in MPS patients remains limited. Collection of data in a standardized fashion using sensespecific patient-reported outcome tools and a general QoL tool may fill the current knowledge gap.

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Oral health status in patients with mucopolysaccharidoses

Cited by 13 publications

References 20 publications

Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature

Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

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