Symptoms and General Pathology

All Conditions

Neoplasms

Skin and Connective Tissue Diseases

Blood and Lymph Conditions

Nervous System Diseases

Rare Diseases

Pain, Postoperative

Breast Neoplasms

Pain

Lymphedema

Chronic Pain

Breast Diseases

Skin Diseases

Lymphatic Diseases

Postoperative Complications

Neurologic Manifestations

Chronic Graft Versus Host Disease

The rehabilitation treatment was performer in single session, lasted 60 minutes for session, 2 times a week, carried-out a 6-week exercises program for a total of 12 sessions, by a physiotherapist trained in oncologic rehabilitation, who started with a first phase of at least 15-20 min of low-impact aerobics warm-up. The second phase consisted in diaphragmatic breathing and postural exercises for the midline alignment in a supine position. Finally the patient continued in front of the mirror with exercises for the recovery of shoulder joint, isometric reinforcement exercises for the recovery of strength of shoulder stabilizer muscles. In the presence of lymphedema an additional weekly lymph drainage session was performed for a total of 10 sessions.

Rehabilitation protocol

Teresa Paolucci, MD, PhD

The hypothesis behind our study was that patients after BC surgery, who underwent quadrantectomy or mastectomy, may present a different disability respect to the upper limb on the operated side. Accordingly they could have a different functional recovery patterns after rehabilitation.

The aim of our study was to compare the recovery of the fluidity of the reaching movement (Jerk) as the primary outcome, the reduction of shoulder pain and improvement of disability for the upper limb respect the operated side as secondary outcomes, before and after a specific rehabilitation protocol treatment.

Surgery is usually the first line of attack against breast cancer (BC). The decisions about surgery depend on many factors based on the stage, the type of cancer and patient acceptability, in terms of her long term peace of mind and survival prospects. Typically, breast reconstruction takes place during or soon after mastectomy, to avoid psychological distress for the patient, and in some cases, also after lumpectomy or quadrantectomy; furthermore breast reconstruction can be done many months or even years after surgery too.

Today, breast cancer rehabilitation can help survivors to obtain and maintain the highest possible physical, social, psychological and vocational functioning, within the limits created by cancer and its treatments. After BC surgery, is common to detect disorders as shoulder dysfunction, postmastectomy syndrome, chemotherapy-induced peripheral neuropathy, axillary cording, lymphedema and a host of others as postural imbalance.

Also, alterations in muscle activation and restricted shoulder mobility, which are common in BC patients, have been found to affect upper limb function and alterations in muscle activity patterns differed by breast surgery and reconstruction type: rehabilitation and in particular mobilization stretches and shoulder and scapula exercises after breast surgery are an effective resource to improve upper limb range of motion and decrease chest tightness and pain.

This study was prompted by the lack of literature about the quadrantectomy versus mastectomy intervention, considering the disability of the upper limb from the operated side, especially if in relation to the rehabilitation pathway, currently recommended in BC care.

The Sequelae of Mastectomy and Quadrantectomy Respect to the Reaching Movement in Breast Cancer Survivors

The Sequelae of Mastectomy and Quadrantectomy Respect to the Reaching Movement in Breast Cancer Survivors: the Evidences of an Integrated Rehabilitation Protocol During the Oncological Care Path

The degrees of flexion, extension, adduction, abduction and internal and external rotation evaluated on the side underwent surgery.

Parameters evaluated according to the scale of Medical Research Council Manual Muscle Testing (MRC), on a scale of 0 to 5 in relation to the maximum expected for that muscle.

The normalized jerk (NJ) was evaluated through the Smart D500 stereo-photogrammetric system (BTS, Italy), calculated on the wrist-target marker distance, within the reaching task performed on the side underwent surgery. It measures the fluidity of the upper limb movement.

Instrument to assess unidimensional measure of pain intensity. VAS was presented in a coloured scale with a middle point, graduations and numbers. Under the scale there was a straight horizontal line of fixed length, 100 mm. The ends were defined as the limits of the parameter to be measured (pain in the last 24 hours), orientated from the left (worst, no pain) to the right (best, worst pain to be imagined). The score is determined by measuring the distance (cm) on the 10 cm line between the "no pain" anchor and the patient's mark, providing a range of scores from 0-10.

Self-administered region-specific outcome instrument developed as a measure of self-rated upper-limb disability and symptoms, actually used to monitor changes in symptoms and function over time. It consists mainly of a 30-item disability/symptom scale, scored 0 (no disability) to 100. The items are related to the degree of difficulty in performing various functional activities because of arm, shoulder or hand limitations (21 items), the intensity of pain, activity-related pain, tingling, weakness and stiffness (5 items), and the effect related to social activities, job, sleep and its psychological impact (4 items).

The movement duration (MD) was evaluated in seconds, through the Smart D500 stereo-photogrammetric system (BTS, Italy), within the reaching task performed on the side underwent surgery.

The degrees of the angle of arm flexion at end of movement (AAF) were evaluated through the Smart D500 stereo-photogrammetric system (BTS, Italy), within the reaching task performed on the side underwent surgery. A zero value is conventionally assigned to AAF when the arm is along the side, positive values represent flexion, negative ones represent extension.

The degrees of the angle at elbow at end of movement (AE) were evaluated through the Smart D500 stereo-photogrammetric system (BTS, Italy), within the reaching task performed on the side underwent surgery. The value assigned is zero when the elbow is completely extended, positive values correspond to flexion, and negative ones to hyperextension.

The mean value of target-approaching velocity (TAV) was evaluated through the Smart D500 stereo-photogrammetric system (BTS, Italy), within the reaching task performed on the side underwent surgery.

University of Roma La Sapienza

Medical Doctor

Diseases and Abnormalities at or Before Birth

Sclerosis

Epilepsy

Movement Disorders

Tuberous Sclerosis

Brain Diseases

Central Nervous System Diseases

Hamartoma

Neoplasms, Multiple Primary

Syndrome

Neoplastic Syndromes, Hereditary

Congenital Abnormalities

Malformations of Cortical Development

Nervous System Malformations

Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Genetic Diseases, Inborn

Tuberous Sclerosis Complex

Early Infantile Epileptic Encephalopathy 4

Ann Hallemans, PhD

Patricia Van de Walle, PT, PhD

Anna Jansen, MD, PhD

The aim of this pilot study is to explore whether the knowledge and experience gained during the T-GaiD project (Treatment of Gait Disorders in Dravet Syndrome - NCT03857451) can be transferred to other populations with similar problems, i.e. motor and gait problems as a result of a genetic disorder characterized by epilepsy and developmental delay. In this pilot study, 40 people with Tuberous Sclerosis Complex and 30 people with STXBP1 will be recruited via the Antwerp University Hospital and invited for a gait analysis in the M²OCEAN movement lab. The aim of the pilot study is to evaluate the feasibility of the 3D gait analysis protocol and to determine the sensitivity of the primary (summative measure of the severity of gait abnormalities) and the secondary (spatio-temporal and kinematic gait parameters) outcome measures.

Neurodevelopmental disorders are a group of rare disorders that usually have a genetic cause, each characterized by specific clinical features. Tuberous Sclerosis Complex (TSC or Bourneville's disease), for example, is characterized by the formation of benign tumors, which can develop in almost all organs and tissues. The symptoms vary greatly from person to person, also within one and the same family. Some patients show only limited skin abnormalities, other patients have more affected organs and sometimes become heavily dependent on help. The group of developmental and epileptic encephalopathies (DEE) are genetic neurological disorders that are characterized by epileptic seizures, which usually occur at a (very) young age, and a developmental delay that often leads to an intellectual disability. STXBP1 encephalopathy (STXBP1-E) is an example of an DEE where, in addition to epileptic seizures and developmental delay, motor disorders and gait abnormalities are also frequently seen.

To date, very little is known about motor development in children with TSC and DEE such as STXBP1-RD. Prospective research in the EPISTOP cohort showed that motor development is often delayed in the first years of life, especially in children who also show characteristics of. In clinical practice, we observe progressively increasing gait problems in a number of children that can lead to loss of autonomous steps at a young adult age. A recent study in adult patients with STXBP1-RD showed that about half of the patients were able to walk in adulthood and that those who could walk often had significant gait problems, which appear to be multifactorial in nature.

The ultimate goal of this project is to characterize gait patterns in children, adolescents and young adults with rare genetic disorders, in order to gain new insights into the pathomechanisms of motor and mobility problems. In the long run, these insights will be indispensable for providing an adequate, scientifically substantiated treatment to reduce and, if possible, prevent the gait disorders.

Gait in Rare Diseases

Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases

body height will be measured in standing position using a ruler and expressed in centimeters

weight in kilograms will be measured using a calibrated scale

height (in centimeters) and weight (in kilograms) will be combined to determine the body mass index

leg length in centimeters will be measured from the anterior superior iliac spine to the medial malleolus, using a tape measure

Passive joint range of motion (in degrees) will be measured during clinical examination using a goniometer

Skeletal alignment (in degrees) will be measured during clinical examination using a goniometer. Skeletal malformations such as hyperlordosis, kyphosis, bow legs, pes valgus and pes planovalgus will be recorded.

Hamstrings length (popliteal angle in degrees) and iliopsoas length (Thomas test in degrees) will be measured during clinical examination using a goniometer

The Medical Research Council muscle scale is a 6-point scale with minimum score 0 = no muscle contraction and maximum score 5 = normal muscle power.

To obtain a summary index of overall gait pathology, the Gait Profile Score will be calculated based on nine relevant lower limb joint angular time profiles collected during 3D gait analysis. These are anterior pelvic tilt, pelvic list, pelvic rotation, hip flexion and extension, hip ad- and abduction, hip rotation, knee flexion and extension, ankle dorsi- and plantar flexion and the foot progression angle. The gait profile score provides the average root mean squared error of the joint angular time profile with respect to normal walking and is presented in degrees. Higher values indicate a larger deviations from normal gait.

The gait pattern is assessed by instrumented 3D gait analysis using the standardized Vicon Clinical Gait Model. Joint rotation angles of the major joints of the lower limbs will be described during walking.

Functional mobility will be assessed during parent interview using the Functional Mobility Scale (FMS). The FMS is a 6-point scale with maximum score of 6 being the most functional outcome (independent on all surfaces) and minimum score of 1 being the least functional outcome (uses wheelchair)

Mobility limitations during daily activities inside and outside of the house will be assessed during parent interview using the validated Dutch translation of the Mobility Questionnaire 28 (MobQuest28), Dutch version: MobiliteitsVragenlijst 28 (MoVra28). The MobQuest28/MoVra28 consists of 28 items with a 5-point rating scale (0 = without any difficulties to 4 = impossible without help). A total score (0-100) indicates the mobility limitations.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
The Sequelae of Mastectomy and Quadrantectomy Respect to the Reaching Movement in Breast Cancer Survivors	NCT04145739	Breast Cancer Pain, Chronic Pain, Postopera... Mastectomy; Lym...	Rehabilitation ...	18 Years - 60 Years	University of Roma La Sapienza
Gait in Rare Diseases	NCT05161494	Tuberous Sclero... STXBP1 Encephal...		6 Years - 25 Years	Universiteit Antwerpen
The Sequelae of Mastectomy and Quadrantectomy Respect to the Reaching Movement in Breast Cancer Survivors	NCT04145739	Breast Cancer Pain, Chronic Pain, Postopera... Mastectomy; Lym...	Rehabilitation ...	18 Years - 60 Years	University of Roma La Sapienza

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