Seckel Syndrome: case report of functional motor recovery using proprioceptive neuromuscular facilitation/Kabat Method

Introduction: Seckel syndrome (SCKL) is a heterogeneous autosomal recessive disorder, the major characteristic of which is microcephalic osteodysplastic dwarfism, which is defined as severe intrauterine growth retardation, severe short stature, severe microcephaly, bird-like profile, retroverted chin and forehead, prominent nose, mental retardation and other congenital anomalies. Objective: Evaluate the therapeutic effect of proprioceptive neuromuscular facilitation/Kabat method (PNF/KM) for functional recovery in SCKL. Methods: A pre-treatment evaluation was performed, followed by an intervention involving PNF/KM. Sessions were held twice a week for ten weeks (total: 20 sessions), followed by a post-treatment evaluation. The evaluator and the therapist were blinded. The assessment instruments were Lawton & Brody's Activities of Daily Living (ADL) Scale, Disabilities of Arm, Shoulder and Hand (DASH), Short Physical Performance Battery, Timed Up and Go test and upper limb muscle strength using a digital dynamometer. Results: No significant changes were found regarding ADL Scale or DASH. However, functional gains were achieved in activities that require biomechanical and proprioceptive actions of the shoulder, arm and wrist. Regarding the Short Physical Performance Battery, improvement was found in variables that require stabilization, strength, balance and agility. An improvement was found in the execution speed of the Timed Up and Go test. An improvement in muscle strength was following the intervention. Conclusion: This study showed that the PNF/KM method was not able to improve the performance on activities of daily living, but improvements were found with regards to balance, stabilization, strength and agility of the upper limbs and lower limbs.


Introduction
Seckel syndrome (SCKL) is a heterogeneous autosomal recessive condition, the main clinical characteristic of which is microcephalic osteodysplastic dwarfism. According to data from Orphanet (2020), SCKL is a rare syndrome that was first described in 1959 by Mann and Russel. In 1960, Helmut Seckel described the main characteristics of the syndrome based on 13 cases in the literature and two cases studied personally. Seckel defined the syndrome as severe intrauterine growth retardation, severe short stature, severe microcephaly, bird-like profile, retroverted chin and forehead, prominent nose and mental retardation. Skeletal defects, abnormalities of the cardiovascular, hematopoietic, endocrine and central nervous systems, delayed bone age, Fanconi anemia, leukemia, chronic nephritis and defective development of the cerebral cortex and corpus callosum are also characteristics found in patients with SCKL (Seckel, 1960;Ceni, 2013;Sisodia et al., 2014;Orphanet, 2020).
According to Vascone et al. (2014), SCKL and primary autosomal recessive microcephaly, such as genetic microcephaly, are not distinct conditions. Both are characterized by microcephaly and the absence of visceral malformations, as stature is no longer considered a discriminating characteristic (Vascone et al., 2014).
The incidence of this syndrome is around 100 cases catalogued in the world since 1960. According to data from Orphanet in 2021, SCKL is a rare disease with an estimated prevalence/incidence of 0.2 per 100,000 live births, with only 50 cases/family published throughout the world. Thus, prenatal diagnosis of SCKL is extremely rare, as knowledge on the syndrome is limited to postnatal evaluations (Pachajoa et al., 2010;Akkurt et al., 2019;Orphanet, 2020).
The delay in normal motor development is due to the small diameter of the brain and primitive patterns, causing a delay in the acquisition of the phases of motor development, functional postures and transfers. The diminished motor independence can lead to skeletal, muscular and postural deformities (Umphred, 2011).
Physiotherapeutic intervention is indicated as early as possible to stimulate normal motor development in children with conditions such as Down syndrome, cerebral palsy, Duchenne muscular dystrophy, etc. A number of methods are used for functional stimulation in such cases, such as the Bobath method, Cuevas Medek, hydrotherapy and Rolfing. The Kabat method (KM) consists of proprioceptive neuromuscular facilitation (PNF) to enable the acquisition of motor functions based on the stimulation of proprioceptors to increase the demand imposed on the neuromuscular mechanism. The method was selected for the present study to investigate the response to an intervention with complex in diagonals and spirals related to the principle of the irradiation of forces and proprioceptive stimulation in the acquisition of sensory-motor function (Cruz-Machado et al., 2007;Ceni, 2013;Cilento et al., 2018).
As a rare syndrome, there are no scientific articles on treatment for SCKL using PNF/KM. Affected individuals exhibit hypotonia, low muscle strength and diminished range of motion (ROM), with negative impacts on gait and balance.
Thus, there is a need for interventions with techniques that enhance proprioception, particularly muscle spindles, to facilitate muscle contraction and maximize postural reactions.
The present study involved the participation of a male patient with SCKL in the city of Moita Bonita (state of Sergipe, Brazil) to investigate the effects of PNF/KM with regards to improvements in activities of daily living, functional performance of the arm, shoulder and hand, lower limb performance, the risk of falls and upper limb muscle strength. Thus, the aim of this study was to investigate the effects of PNF/KM on functional recovery in SCKL. The relevance of this study resides in its pioneering nature for the subsequent development of future scientific research involving SCKL and interventions with neurofunctional physiotherapy.

Study design
This is a case study, the methodology of which refers to a detailed analysis of an individual case that explains the dynamics and pathology of a particular disease. Through this procedure, it is assumed that it is possible to acquire knowledge of the phenomenon studied from the intense exploration of a single case. The design of this type of study represents an empirical investigation and comprises a comprehensive method, with the logic of organization, collection and analysis of data. Therefore, it can include both single and multiple case studies, as well as quantitative and qualitative research approaches (Ventura, 2007). A longitudinal case report study was conducted involving an 18-year-old male with a clinical diagnosis of SCKL after authorization granted by a legal guardian through the signing of a statement of informed consent. Research, Society and Development, v. 11, n. 2, e37111225080, 2022 (CC BY 4

Setting
This study was developed at the Serapião de Gois Primary Care Unit located on Av. João Evangelista da Costa in the municipality of Moita Bonita, state of Sergipe, Brazil.

Sample
An 18-year-old male (weight: 34.8 kg; height: 1.52 m) diagnosed with SCKL 14 years earlier participated in the present study. The patient performed hydrotherapy twice per week and physiotherapy based on demand at the local primary care unit. The guardian reported that the patient had undergone physiotherapy since three years of age, which did not involve PNF/KM. Physiotherapeutic treatment was interrupted two months prior to the onset of the present study, which was justified by the need for the study.

Procedures and evaluation instruments:
PNF/KM was administered by a physiotherapist trained in the technique and blinded to the procedure. Twenty sessions were held at a frequency of two sessions per week. The exercises were performed in three sets of ten repetitions with a one-minute rest interval between sets. PNF/KM was performed on primitive and functional diagonals with agonist and antagonist patterns of the upper and lower limbs.

Muscle strength
Isometric muscle strength was measured bilaterally using the grip strength test with the aid of the Instrutherm® digital dynamometer, model DM-90, following the guidelines of the American Society of Hand Therapists (ASHT, 2005(ASHT, -2006. The patient was seated in a chair without armrests, trunk stabilized, back erect, knees flexed at 90º, shoulder slightly adducted, elbow flexed at 90º, forearm and wrist in neutral position. The hand to be tested was fixed to the dynamometer (handle position II), which was held by the examiner. Upon a verbal command, three readings were made on each hand, with a one-minute rest interval between readings. To minimize the effects associated to the initial and final performance, the mean of the three readings was calculated and the patient was instructed not to perform the Valsalva maneuver. The duration of maximum contraction was three seconds. The test was first performed with the right hand without prior warmup, followed by alternating hands between readings. The highest value and mean of the three readings per hand were recorded. The strength evaluation was performed at the pre-invention and post-intervention evaluations (Figueiredo et al., 2007).

Lawton & Brody activities of daily living scale
The version of the Lawton & Brody scale validated, translated, adapted for Portuguese was used for the assessment of performance on activities of daily living. This scale assesses more complex activities, the performance of which is directly related to independent community living. Each item is scored from 0 to 3 points. The total ranges from 0 to 90 points, with higher scores indicative of greater dependence (Lopes & Virtuoso, 2008).

Disabilities of Arm, Shoulder and Hand
The DASH scale is used to assess dysfunctions and limitations of the upper limbs and has been validated, translated and adapted to Portuguese. The functional assessment module has 30 items. Two optional modules for sports/leisure and professional activities each have five items (Orfale et al., 2005).

Short Physical Performance Battery
The SPPB has been validated, translated and adapted to Portuguese and is used to measure functional performance of the lower limbs. The battery consists of three timed tasks: 1) standing balance; 2) walking at usual pace; 3) standing up from a chair five times. The score ranges from 0 (worst performance) to 12 (best performance) (Nakano, 2007).

Timed Up and Go test
The TUG test has high reliability for the assessment of the risk of falls. This test is widely used in neurological studies involving stroke survivors. The TUG test is timed and consists of standing up from a chair, walking three meters to a marker on the floor, turning around, walking back to the chair and sitting down with the back against the backrest of the chair. The task is performed as quickly as possible without posing a risk to safety. An execution time of 12 or more seconds is indicative of a greater fall risk (Sasaki, 2015;Lusardi et al., 2017;Ferreira & Pousa, 2018).

Ethical aspects
The legal guardian signed a statement of informed consent. This study received approval from the institutional review board of Universidade Federal de Sergipe (certificate number: 3.497.476) and was conducted in accordance with the ethical principles stipulated in Resolution 466/2012 of the Brazilian National Board of Health.

Statistical analysis
Data analysis was performed with the aid of the Excel 2010 and SPSS version 22 programs. Descriptive statistics were performed, with the calculation of absolute and relative frequencies.

Results
The analysis of specific activities of daily living using the Lawton & Brody scale (1969) revealed no improvements in the capacity for independent community living between the pre-intervention and post-intervention evaluations following the administration of PNF/KM. In the analysis of the total Lawton & Brody scale, no difference was found between the preintervention and post-intervention evaluations regarding the capacity for independent community living (Frame 1).  Walking speed test (4 meters) 1 1

times chair lift test 1 3
Final Test Result R = 4 R = 8 Source: Search results.
In the analysis of the risk of falls using the TUG test, an increase in the execution time of the test was found between the pre-intervention evaluation (28 s) and post-intervention evaluation (19.9 s) ( Figure 1).

Figure 1. Execution velocity of Timed Up and Go test before and after intervention.
Source: Search results.

Discussion
Seckel syndrome is a rare disease that affects motor development if not treated adequately with physiotherapeutic resources that exert a direct effect on the abnormal sensory-motor experience of these patients. As a rare syndrome, studies involving physiotherapeutic approaches that can enhance neurofunctional performance in these patients are rare. Due to this scarcity of studies and the difficulty encountering new cases with an established clinical diagnosis, most medical and dental case reports do not enable comparing results with those from other reliable studies. This scarce but relevant clinical evidence motivated the present study involving the Kabat method of proprioceptive neuromuscular facilitation (PNF/KM) as the physiotherapeutic intervention to investigate its effect on improving motor performance in SCKL.
No significant improvements in performance on activities of daily living were found between the pre-intervention and post-intervention evaluations following treatment with PNF/KM. This finding may be related to the learning difficulty resulting from the syndrome. Mo et al. (2015) report that individuals with this syndrome may present mental retardation due to the small brain size. Another factor that may have contributed to this lack of an improvement was the number of sessions, which may have been insufficient to achieve improvements in activities of daily living. Therefore, further longitudinal studies should be conducted with a larger number of sessions and an increase in the frequency of the intervention sessions (Mo et al., 2015).
The analysis using the Disabilities of Arm, Shoulder and Hand (DASH) scale revealed functional gains in upper limb function, suggesting improvements in activities that require biomechanical and proprioceptive actions of the shoulders, arms and wrists. The DASH score (maximum total: 190 points) reduced from 145 points at the pre-intervention evaluation to 140 points at the post-intervention evaluation, corresponding to a 3.5% improvement. According to Franchignoni et al. (2010), higher DASH scores denote greater dependence and lower DASH scores denote greater independence with regards to upper limb function. In a study employing sensory-motor stimulation through assisted active exercises [stimulation exercises in "cat" position (on all fours); exercises in "cat" position on balance board and trampoline; training in standing position on foam rubber mat, balance board and trampoline; stimulation to roll over; training of sitting to standing], Ceni (2013) demonstrated the possibility of motor improvement in patients with this syndrome. In the same study, the author cited other stimulation methods for motor development, such as the Bobath method, Cuevas Medek, hydrotherapy and Rolfing. Based on these presuppositions, it is reasonable to assume that PNF/KM can also contribute to the maximization of motor functioning in these patients, as demonstrated in the present investigation (Franchignoni et al., 2010;Ceni, 2013).
With regards to motor performance evaluated using the Short Physical Performance Battery (SPPB), significant gains were found in stabilization, strength, balance and agility. The patient went from a total score of 4 points at the pre-intervention evaluation to 8 points at the post-intervention evaluation. An SPPB score close to zero corresponds to the worst performance and a score of 12 points corresponds to the best performance. According to Pavasini et al. (2016), a low score on this test is associated with the loss of mobility, disability, hospitalization and a longer hospital stay in the older population. The present results suggest that the improvement in motor performance was related to the gains in strength and balance achieved through the intervention with PNF/KM (Nakano, 2007;Pavisini et al., 2016).
The execution time on the Timed Up and Go test went from 28 seconds at the pre-intervention evaluation to 19.9 seconds at the post-intervention evaluation, which is an improvement of approximately 40%. According to Lusardi et al., an execution time of 12 or more seconds is indicative of a greater risk of falls. The present results indicate that the intervention with PNF/KM reduced the risk of falls in the patient, as demonstrated by the shorter execution time; however, the patient continued to be a fall risk after the intervention. This may be related to the duration of treatment and frequency of the sessions, which may have been insufficient to resolve problems of balance, acquisition of strength and activation of joint proprioceptors resulting from the syndrome. Another important factor is that SCKL causes biomechanical postural disorders. According to Sanglard et al., postural problems can limit the recovery of ambulation and functional independence, which can exert negative impacts on gait, balance and performance on activities of daily living. Nonetheless, the findings suggest that the method was effective at minimizing biomechanical disorders and enhancing the performance of activities of daily living (Sanglard et al., 2004;Lusardi et al., 2017).
In the analysis of grip strength, a 23.4% increase was found in the right handgoing from 4.7 N in the preintervention evaluation to 5.8 N in the post-intervention evaluationand a 27.4% increase was found in the left handgoing from 5.1 to 6.5 N, respectively. The difference in gain between the right and left hands may have been due to the fact that the left was the dominant side in the patient, contributing to the greater gain in the left upper limb. According to Kofotolis et al. (2005), proprioceptive stimuli in PNF, such as resistance and stretching stimuli, enable learning with positive repercussions on motor control expressed by improvements in muscle strength and power, the awareness of movement, direction, stability and balance (Kofotolis et al., 2005).
The present study has limitations that should be considered. The lack of studies with a neurofunctional approach to physiotherapeutic treatment for patients with SCKL impeded the comparison of the findings. Moreover, the development of the study was restricted to a case report. This was related to rareness of the disease and the fact that a reliable clinical diagnosis depends on costly DNA, cytogenetic and metabolic tests.

Conclusion
The Kabat method of proprioceptive neuromuscular facilitation did not lead to improvements in the performance of activities of daily living in a patient with Seckel syndrome, which could be attributed to the discrete mental retardation presented by the patient. However, the method proved effective at improving motor performance involving balance, stabilization, strength and agility of the upper and lower limbs. The present investigation is a pioneering study that presents the results of a therapeutic intervention involving proprioceptive neuromuscular facilitation in a rare syndrome and can serve as the basis for the development of further scientific studies involving this syndrome and interventions with neurofunctional physiotherapy. It is suggested that further studies be carried out with the use and comparison of new therapeutic methods, in order to expand the possibilities in the functional rehabilitation of patients diagnosed with the syndrome.