Joint hypermobility (JH) may represent the extreme normal range of the motion spectrum or condition for a group of hereditary connective tissue disorders, which is influenced by age, sex, and ethnicity (1). It has a Gaussian distribution on the spectrum of physiological range of motion and is considered a genetically determined deviation from normality (2). It can be a descriptor and exist as an isolated diagnostic finding, but it is often a feature of a larger syndromic diagnosis, rarely diagnosed (3), and considered by most professionals as a harmless ability (4).

The method for JH assessment was proposed by Beighton et al. (5). In 2017, an International Consortium for the Ehlers-Danlos Syndromes (EDS) proposed the 2017 International Classification for EDS and recognized 13 subtypes of EDS (2). Among the 13 subtypes, the hypermobile EDS subtype is similar to the hypermobility spectrum disorders (HSD), an underrecognized group of connective tissue disorders that involves a spectrum ranging from asymptomatic hypermobility, or hypermobility affecting only one joint, to generalized joint hypermobility (GJH) (6). This new classification included the Beighton method among its diagnostic criteria, with adjustments, and considerations that included changes in the parameters of the scores. The score ≥6 is for prepubertal children and adolescents, a score ≥5 is for pubertal men and women up to 50 years of age, and a score ≥4 is for those over 50 years of age (2). In the same year, Castori et al. (6) proposed a criteria for identification of the characteristics.

The diagnosis for hypermobile Ehlers-Danlos syndrome (hEDS) is clinical and considers the presence of criteria (6, 7) including a spectrum of phenotypes, ranging from asymptomatic condition, non-syndromic JH, to hEDS, and HSD. In 2019, Copetti et al. (8) explored the clinical ramifications of hEDS and HSD and grouped these conditions into a single phenotype termed hEDS/HSD and considered severity in class distinction. HSD has become updated diagnostics for all those individuals who were diagnosed by previous criteria as hEDS-HSD or joint hypermobility syndrome (JHS). HSD is also intended to identify milder subtypes that fill the entire gap between asymptomatic JH and hEDS (6).

GJH is relatively common, with a prevalence of 2–64.6% in different populations, varying among age, sex, and ethnicity of the population (9–11). It is common in childhood, affecting ~8–39% of school-age children (12), 41% of children and adolescents (13), and 64.6% of pre-school-age children (9). It is more frequent among women and children and among Asians, followed by African-Americans and Caucasians (14–16). However, the locomotor system of the child with JH, already in the first year of life, may present characteristics that signal implications in neuropsychomotor development (17–19). Signs may include motor and cognitive deficits, benign motor delay (20), frequent falls (21–24), “flying bird” hand sign, Steinberg sign, and Walker-Murdoch sign (19, 25–27).

Individuals with JH are more vulnerable to microtraumas (28–30) and macrotraumas (31), and eventually adopt inadequate postural habits (32–34) because of their less robust tissues, which imply insufficient support of the physiological function of the locomotor apparatus. It is relevant that tissues can suffer degenerative processes (35), with insidious and silent signs and symptoms (36). This pattern of joint involvement results in several well-defined physical factors and implications in other characteristics resulting from inadequate postures (37).

In addition to motor characteristics, psychological dysfunctions and emotional problems, including depression, anxiety, affective disorder, low self-confidence, negative thoughts, hopelessness, and despair, are common among these patients (38–41).

Psychological dysfunctions and emotional problems are common among those with EDS and may have consequences for ignoring or not confronting the presence of comorbid psychological problems, which may lead to suboptimal treatment (42). However, there is a growing amount of evidence pointing to a high prevalence of psychiatric conditions among individuals with EDS (41), which includes, among others, anxiety disorders, depression, and neurodevelopmental disorders, such as attention deficit hyperactivity disorder, and other clinical manifestations, associated with JH (43, 44).

Difficulties in the acquisition and performance of motor skills results in categorization of this population as clumsy, stubborn, and with clumsy handwriting, poor postural control, and difficulties in motor learning. Study by Vaivre-Douret (45) corroborates these results, pointing out that children with developmental coordination disorders are characterized by difficulties in the acquisition and performance of motor skills, which persist into adolescence and adulthood.

A previous study reports signs of malaise in these patients, lack of concentration and memory, low self-efficacy and self-worth, and anxiety and depression (46). Depressive feelings are common in hEDS and can be understood as secondary to the difficulties related to the disease (47). Patients with hEDS often suffer from anxiety disorders, and the link between these two variables has been repeatedly found in the literature (48, 49). In 2021, De Vries et al. (50) showed that adolescents and young adults with a combination of GJH and anxiety were significantly impaired, with decreased physical and psychosocial functioning, decreased workload, increased fatigue, and debilitating pain (50).

Fatigue is also present in most affected individuals, manifesting as persistent feelings of tiredness, lack of energy, and feelings of exhaustion with impaired concentration (51). Bravo (26) found symptoms of chronic fatigue, dizziness, and fainting in 40% of men and 64% of women <30 years of age, a condition that receives little medical attention (52).

In general, people with EDS report how they must deal with the social image that people around them have about them. They are labeled as lazy, apathetic, and tired people who are unable to accomplish a project, when in fact they are too exhausted to do it (53). In addition, because of the invisible nature of this disease, they face judgments from friends, family members, and strangers (54). Thus, some patients exhibit an excessive rest pattern. Therefore, they are labeled hyperactive or lazy, or still as unsociable, and depressed (47). Shame, guilt, and stigma may have negative psychosocial consequences, decrease self-esteem, and lead to depression (54) and feelings of social isolation (55).

Nocturnal insomnia and morning sleepiness are frequent in hEDS (56–58). Patients with hEDS report sleeping problems, including insomnia and non-restorative sleep (14, 59). Baeza-Velasco et al. (39) cite that reduced sleep is related to pain complaints, with psychosocial consequences and chronicity for the quality of life. The presence of “growing pain” in children was reported by Matsudo et al. (60), who identified that in most cases pain occurred in the lower limbs. Early recognition and adequate treatment of problems such as sleep function, mobility, chronic pain, and psychological conditions are important for successful holistic treatment of patients with EDS (61).

According to the Regulatory Standards for Research in Human Beings, Resolution 466/2012 of the National Health Council, this study was approved by the Research Ethics Committee (CEP) of the São José do Rio Preto Medical School (FAMERP), Opinion CAAE No. 36145820.6.000.5415. Data collection was performed after approval of the waiver for the need of the Informed Consent Form.

This is a retrospective, observational, quantitative, and cross-sectional study. Clinical records of patients with JH, seen at the Clínica de Fisioterapia Lamari Ltda of São José do Rio Preto—SP, were analyzed. Inclusion criteria were adopted for medical records that contained the data listed in the data collection instrument.

This study was conducted after the publication of the new nosology for EDS and disorders associated with hypermobility in 2017 (2), which considers specific clinical presentations for EDS subtypes and introduces the concept of hypermobility spectrum (6). Therefore, all patients previously characterized or diagnosed with JHS/EDS-HT, according to the previous nosology and criteria, had their records reevaluated, following the guidelines established by the new nosology for EDS.

The records were made in an instrument with a specific questionnaire for the analysis of the characteristics of joint hypermobility (JH) and related clinical features. The data were tabulated in an excel spreadsheet, prepared as the recording tool for the study.

The results were obtained from the analyses by descriptive and inferential crossings of the data from the sample of 482 medical records of individuals seen in the period from 2012 to 2020, from 21 Brazilian states and the Federal District, totaling 124 cities. The group consisted of individuals with age group between 1 and 76 years, with a mean age of 25 years (SD = 15.94). Of these, 322 (66.80%) were aged ≥15 years, and 352 (73.02%) were women. The absolute and percentage distribution of the total sample by age-group and sex is shown in Table 1.

The family history of JH was reported by 382 (79.25%), and others were unaware of any history. The total sample consisted of 427 (88.5%) individuals with HDS and 55 (11.4%) with hEDS.

Data collection was made by the researcher using a self-developed instrument from March 2020 to July 2020, to record the data obtained from the medical records of the patients seen at the Clínica de Fisioterapia Lamari Ltda of São José do Rio Preto in the period from January 2012 to March 2020. The data from the clinical history, general and specific physical examination, characteristics associated with JH, analysis by the Beighton method (5), considering the new classification criteria (2, 6), and the family history of JH were included.

Joint mobility was evaluated in the joints of five body regions: fifth finger, wrist, elbow, knee, and trunk, using the method proposed by Beighton et al. (5).

The Beighton total score consists of five variables, of which four are tested bilaterally and one test evaluates the lower back and lower extremities. For scoring, the following variables were considered: thumb apposition, fifth finger extension, elbow extension, knee extension, and “complete anterior flexion of the trunk with flat hands on the floor, with extended knees” (AFT). Total scores ranged from 0 to 9. Joint mobility was evaluated according to the scores proposed by Beighton et al. (5). One point was scored for each positive result (for each side), and a total score was attributed by adding up the variables. The correlation and significance between each of the Beighton scores ≥4, ≥5, and ≥6 were analyzed, according to sex and age range.

The JH of the hip and trunk was evaluated using sitting positions on the ground and was defined as present when the following were observed: sitting in the “W” position with the lower limbs abducted, and with the knees in full flexion and the feet lateralized, sitting in a “concave” position, that is, trunk and head anteriorized, with protruding shoulders and abdomen. The variables sitting in “W” and “concave” positions were analyzed by “age range” and in the total sample, considering those who were never able to sit in these positions, as well as those who were always able to sit in these positions and those who had been able to sit in these positions only in the past. The illustrations are shown in Figure 1. The significance of these variables was analyzed, considering age groups, as well as in the total sample. The data are presented in Table 5.

JH in the hands was defined as present when the related abilities were identified. The “birds flying” hand sign was evaluated by the active hyperextension of the fingers. The JH was defined as present when the angle of the metacarpophalangeal joints was greater than 20° in both hands. The “greeting” sign was evaluated considering the act of shaking hands when greeting. JH was defined by the perception of excessive hand mobility, as well as the sensation of softness of the skin while shaking hands during the act of greeting. Writing adaptation was evaluated during the act of writing. JH was defined as present when the patient held the pencil or pen in an atypical way, that is, not consistent with support by the pinch movement of the thumb and index fingers. The correlation and significance between these variables were analyzed. The illustrations are shown in Figure 2.

Descriptive and inferential statistical methods were used. Probability issues of a population were analyzed based on the sample data, for which mean, median, mode, standard deviation, standard error, maximum value, minimum value, Komolgorov-Smirnov test, significance, relative value, absolute value, Mann-Whitney U test, and Spearman correlation test. Hypothesis tests were performed using Mann-Whitney's U test and Spearman's correlation test to analyze the behavior of correlations between the variables analyzed and the degree of explanation of the dependent variable in relation to the independent variables of the sample. The data were replicated in absolute and relative forms in this first part. In the inferential scope, it was outlined as a statistical objective, and the analysis of independence and prediction between the variables was proposed in the scope of work. The results of independence between the proposed variables were given by analysis between the values of p (significance). All analyses were conducted using the SPSS Statistics Software (version 23) linked to the features of the Excel tool (version 2.016).

Analyses of the total sample by Beighton scores, which scores and characterizes JH currently in five regions of the body, with a score variation of 0–9, showed that the mean was represented by score 6 (SD = 2.12). Analyses of the total sample by the Beighton scores, which scores and characterizes JH currently in five body regions, with a score range from 0 to 9, showed that the mean was represented by a score of 6 (SD = 2.12). Analyses of the distribution of the total Beighton scores in the total sample showed that the total Beighton score ≥4 was completed by 426 (88.38%), the score ≥5 by 344 (71.37%), and the score ≥6 by 312 (64.73%). The score ≤3 was filled by 56 (11.64%).

The Komolgorov-Smirnov Normality and Spearman Correlation statistical tests were applied, which pointed out that the total Beighton scores as a function of sex and age in the total sample show a non-significant tendency for women to obtain higher Beighton score scores (rs = −0.050, p = 0.259). Smaller stature and younger age show a tendency for higher total Beighton scores, with a statistically significant difference (rs ₌ −0.161, p = 0.000; rs = −0.216, p = 0.000).

Analyses of the distribution of Beighton's total scores ≥4, ≥5, and ≥6 in the total sample as a function of sex are presented in Table 2, where the correlations between each of the scores ≥4, ≥5, and ≥6 with sex and their respective “p” values are shown. In Table 3, correlations between each of the scores ≥4, ≥5, and ≥6 with age group and their respective “p” values are shown.

Analyses of physical characteristics in the locomotor apparatus showed that a minimum of 133 (27.59%) and a maximum of 213 (44.19%) individuals presented different physical signs in the hands, and 261 (54.15%) participants were sitting always in the “concave” position. A majority of 337 (69.92%) participants reported that they were able to “sit in a concave position,” including those who were able to do so in the past. Sitting in the “W” position was always possible for 189 (39.21%), and when we included those who were able to do so in the past, they comprised a majority of (55.81%) of the total sample.

Among the characteristics of physical signs on hands, the sign “flying bird hands” comprised 213 (44.19%) individuals, “compliance” sign, 189 (39.21%), writing adaptation, 161 (33.40%), weak hands for handling, 157 (32.57%), and tiredness due to writing, 133 (27.59%).

Analyses were performed to verify a correlation between the total Beighton score, “birds flying” sign, and the “compliance” sign in the total sample. Analyses of the “compliance” sign variable showed positive and significant correlations between the Beighton score and the “compliance” sign variable (rs = 0.167; p = 0.000), as well as with the “bird hands flying” variable (rs = 0.150; p = 0.001). Thus, the presence of the “greeting” sign and/or “flying bird hands” correlated with the Beighton scores for GJH.

Analyses to verify the correlation between the variables referring to the clinical signs of the hands are presented in Table 4.

The analyses show that sit “concave” was always possible for 261 (54.15%) individuals of the total sample. When also considering those who were able to do so in the past, they represented the majority with 337 (69.92%), as the difference was not significant in the total sample (p = 0.556) and by age-group (p = 0.502). The ability to sit in a “W” posture was always possible for 189 (39.21%) of the total sample. When also considering those who were able to sit in a “W” posture in the past, they represented the majority with 269 (55.81%) of the total sample, with difference not significant in the total sample (p = 0.429) and in the age-group (p = 0.284). The absolute and percentage frequencies of body postures and skills in the age-groups never presented, always presented, and presented only in the past by age-group and in the total sample and p values of the variables in the age-groups and in the total sample are presented in Table 5.

Among the characteristics of psychosocial implications, fatigue accounted for more than half of the total sample. Clumsy, stubborn, or apathy individuals and individuals with attention deficit accounted for slightly less than half of the total sample. Anxiety, having been stigmatized as “lazy,” insomnia, sleepiness, social isolation, apathy, depression, and impaired spatial and/or temporal orientation comprised 15.76–28.01% of the participants. An analysis of the total sample referring to pain in the lower limbs as a symptom was reported by the majority and “growing pain” by more than one third of the total sample. The absolute values and percentages are presented in Table 6.

Analyses to verify in the total sample if there is a correlation between the total Beighton score and “growing pain” to show that the more the total Beighton score increases, there is a tendency not to have “growing pain,” and the difference was not significant (p = 0.827), according to Spearman's test (rs = −0.010).

Analysis of characteristics related to neuropsychomotor development showed that 19.92% showed delayed walking, 15.35% did not crawl or crawled differently, and school performance was impaired for 12.86%. Variables related to motor performance show that for higher total Beighton scores, there is a tendency for motor implications and correlation between the variables. Analyses to verify whether there was a correlation between total Beighton scores and having crawled differently show that as the total Beighton score increased, there was a greater tendency to crawl differently; however, the difference was non-significant (p = 0.548), according to the Spearman's test (rs = 0.027).

Analysis also showed that the higher the total Beighton score, the greater the tendency not to crawl, with the difference being non-significant (p = 0.954), according to the Spearman test (corr = −0.003). For those who crawl differently, there was a tendency to have impaired school performance, and the difference was significant (p = 0.036), according to the Spearman's test (Corr = 0.095); for those who crawl differently, there was a tendency to have delayed ambulation, and the difference was not significant (p = 0.190), according to Spearman's test (Corr = 0.060). Participants who did not crawl showed a tendency to have impaired school performance, with a non-significant difference (p = 0.064), according to Spearman's test (Corr = 0.084); those who did not crawl showed a tendency for delayed walking, with significant difference (p = 0.003), according to Spearman's test (Corr = 0.136), and for those whose school performance was impaired, there was a tendency for delayed walking, with significant difference (p = 0.014), according to Spearman's test (Corr = 0.112). The values are presented in Table 7.