Joubert syndrome is not a cause of classical autism.

A previous report noted a 27% prevalence of autism in Joubert syndrome (JS), raising the question of overlapping etiologies. Family studies have shown that autism is characterized by family loading for a number of specific behavioral and psychiatric disorders and that the sib recurrence risk is around 4%. The purpose of this study is to determine whether children with Joubert and their families show behavioral or genetic characteristics similar to autism. Thirty-one volunteer Joubert families were identified. Parents completed a semi-structured family history interview and the Autism Behavioral Checklist. Rates of family loading for neuropsychiatric disorders in the JS families were compared to autism family history data and Down syndrome (DS) controls. The JS families had significantly lower rates of autism, alcoholism, cognitive, and language disorders than the autism families. Their rate of depression was lower, but not significantly different from that found in autism families. None of the JS children met the clinical cut-off for autism based on parental symptom report and the sib recurrence risk was 32% for the JS families compared to 4% for the autism and 0% for DS families. These data indicate that JS is a genetically distinct disorder from autism. Different genes with different inheritance patterns that affect neurodevelopment of the cerebellum could explain the clinical similarities previously reported in JS and autism.

Comparisons of the five analytic reference lines of the horizontal lip position: their consistency and sensitivity.

One-hundred ten lateral facial profiles were judged to be attractive and were selected from 1000 Taiwanese pupils by a panel of four men and three women from different educational backgrounds. The 110 in the attractive group were analyzed by using five analytic reference lines: Ricketts E line, Holdaway's H line, Steiner's S1 line, Burstone's B line, and Sushner's S2 line. Comparisons of the "consistency" (the smaller coefficient of variation the better the consistency) and the "sensitivity" (the power to differentiate the attractive lateral facial profiles from the unattractive ones) of the five analytic lines were performed. The B line was found to be best in terms of both consistency and sensitivity. From the point of view of convenience, the E line is of great value because its anterior location makes it convenient for the clinician to use. However, the B line appears best from the perspective of the value of reference. This study found that those analytic reference lines that do not transverse an anatomic landmark of the nose most likely have poor consistency and sensitivity. This finding is consistent with the idea that the nose should be taken into consideration when a line is to be used as a reference for beauty on the lateral facial profile.

The nature of arch width difference and palatal depth of the anterior open bite.

Measurements were made of study casts of patients with anterior open bite to compare the width of maxillary and mandibular arches and the depth of the palate. This study was designed to (1) explore the nature of the arch width difference for patients with anterior open bite, whether dental or skeletal in nature, and (2) clarify the general impression of "high" palatal vaults for anterior open bite cases, to make sure if there are "absolutely high" or "relatively high" palatal vaults. Measurements in male and female patients with open bite malocclusions were analyzed and compared with those in male and female patients with normal occlusions. Similar trends were found for both sexes. Skeletally narrowed maxillary posterior width and dentally widened mandibular posterior widths were found. Palatal depth was in the normal range in the patients with anterior open bite. Orthopedic widening of the maxillae and inclining of the mandibular posterior teeth lingually are recommended when orthodontic treatment is to be rendered to patients with anterior open bite.

A new approach determining the sagittal interjaw relationship: the bisecting plane analysis.

BACKGROUND: Assessment of the sagittal interjaw relationship has for long time been dependent upon the relative positions, either to reference lines outside the jaw itself or, in some cases, the position was dentally determined. The present study developed a line bisecting the upper and lower jaws for a better approach to the assessment of orthopedic sagittal interjaw relationships. METHODS: One hundred and ten randomly selected samples were used to make a comparison between bisecting plane (BSP) and functional occlusal plane (FOP) in terms of their accuracy in determining sagittal interjaw relationships. The "gold standard" for comparison was obtained through clinical comprehensive classification (CCC). RESULTS: The BSP method was found to provide a better assessment of the sagittal interjaw relationship than the FOP method. Tests of chance-expected correction proportions were taken for both methods with CCC. A higher kappa value for the BSP method (0.659) was obtained than for the FOP (0.477). CONCLUSIONS: Bisecting (BS) plane is an alternative reference plane for judging a skeletal sagittal interjaw relationship. The compliance with the clinical evaluation makes it a possible option when the orthopedic interjaw relationship needs to be critically determined for jaw rotation cases.

[The beauty perspective of the horizontal lip position].

The purpose of the present study was to explore the role of horizontal lip position in the evaluation of beauty in a lateral facial profile. The sample size of 1,000 students were randomly selected from all the Junior High Schools in the city of Taipei. One hundred and ten 12-year-old students were judged to be good looking and were selected by 7 panelists of different educational backgrounds. The 110 good-looking students were composed of 83 males and 27 females. Absolute horizontal lip position (the shortest distance between tip of lip and the reference line used) and relative horizontal lip position (the difference between lower and upper lip position) were analyzed between males and females, then between the good-looking group and the non-good-looking groups. The following conclusions were drawn from the results: 1. The requirement on the soft-tissue lateral profile of females is more straight than that of males. 2. According to Ricketts' E line, Steiner's S1 line and Burstone's B line, the relative lip position between 0 to +2 is acceptable to most people. 3. Fullness of lips is more readily accepted by people for males than females. 4. Further investigation of the effectiveness of Holdaway's H line and Sushner's S2 line is desperately needed. Their reference consistency vibrated a lot in this study.