This study aims to analyze the oral and craniofacial characteristics associated with Hereditary Spastic Paraplegia (HSP) using non-invasive complementary diagnostic tests, with the hypotesis that there is a characteristic phenotype of PEF that specifically affects the stomatognathic system. This is a preliminary observational, cross-sectional, and exploratory study. The study population includes 25 individuals with HSP and 25 control individuals with a similar age range. Functional clinical examination, intraoral scanning, panoramic radiography, and lateral cephalometric radiography were used to assess functional variables, periodontal alterations, intra- and interarch relationships, and cephalometric variables according to the Ricketts and Steiner analyses. Posterior cervical soft tissue thickness was also evaluated. Statistical analysis included between-group comparisons, effect size measures, logistic regression, and ROC analysis to determine the discriminative capacity of the studied variables.
Study Type
OBSERVATIONAL
Enrollment
50
Hospital Odontològic de la Universitat de Barcelona
L'Hospitalet de Llobregat, Barcelona, Spain
ANB, SNA, and SNB angles
Measurements of the ANB, SNA, and SNB angles obtained from lateral cephalograms. These measurements were used to assess the sagittal relationship between the maxilla and the mandible relative to the cranial base and to evaluate their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Position and inclination of the upper and lower incisors
Measurements of the position and inclination of the upper and lower incisors obtained from lateral cephalograms. These measurements were used to assess sagittal protrusion, retrusion, and incisor inclination, and to evaluate their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Facial convexity and lower facial height
Measurements of facial convexity and lower facial height obtained from lateral cephalograms. These measurements were used to assess the sagittal and vertical relationships between the maxilla and the mandible and to evaluate their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Facial depth, facial axis, and maxillary depth
Measurements of facial depth, facial axis, and maxillary depth obtained from lateral cephalograms. These measurements were used to assess the sagittal and vertical positions of the maxilla and mandible relative to the cranial base and to evaluate their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Cranial deflection, anterior cranial length, and mandibular body length
Measurements of cranial deflection, anterior cranial length, and mandibular body length obtained from lateral cephalograms. These measurements were used to characterize craniofacial skeletal morphology and to evaluate their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Assessment of congenital dental anomalies
To evaluate the correlation between congenital dental anomalies involving tooth number, position, morphology, and other developmental alterations identified on panoramic radiographs and the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Assessment of caries experience (DMFT index)
To evaluate the correlation between caries experience, assessed using the DMFT (Decayed, Missing, and Filled Teeth) index from panoramic radiographs and anamnesis, and the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Overjet and overbite
Measurements of overjet and overbite obtained from intraoral digital scans. These measurements were used to assess the sagittal and vertical relationships between the upper and lower incisors and to evaluate their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Molar and canine occlusal relationships
Assessment of molar and canine occlusal relationships using intraoral digital scans. These measurements were used to evaluate occlusal relationships and to assess their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Transverse occlusal discrepancies
Assessment of transverse occlusal discrepancies using intraoral digital scans. These measurements were used to evaluate transverse occlusal relationships and to assess their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Dental crowding
Assessment of dental crowding using intraoral digital scans. These measurements were used to evaluate dental arch space discrepancies and to assess their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Congenital dental anomalies
Assessment of congenital dental anomalies affecting tooth size, shape, structure, and other developmental characteristics using intraoral digital scans. These findings were used to evaluate the presence of developmental dental anomalies and to assess their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
History of upper airway surgery
Assessment of a history of upper airway surgery based on medical history (anamnesis). This information was used to evaluate its correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Nocturnal snoring
Assessment of nocturnal snoring based on medical history (anamnesis). This information was used to evaluate its correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Nostril characteristics, swallowing pattern, and tongue mobility
Assessment of nostril characteristics, swallowing pattern, and tongue mobility based on functional clinical examination. These findings were used to evaluate their correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
Breathing mode
Assessment of breathing mode (nasal, oral, or mixed) based on medical history (anamnesis) and functional clinical examination. This assessment was used to evaluate its correlation with the presence of PEF.
Time frame: Single assessment performed during one visit, with no follow-up. In the study group, measurements were obtained within a maximum of 6 months from study enrollment. In the control group, measurements were obtained up to 10 years retrospectively.
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