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Please read before consulting the screening tool: The screening tool for Stickler syndrome type 1 has been designed based on research performed in the University of Cambridge and Vitreoretinal Research Group at Addenbrookes Hospital and the NHS Highly Specialised Service for Stickler syndrome.
It was originally tested in children, aged 4-10 years, diagnosed with Type 1 Stickler syndrome, and thus is mainly focused on identifying Type 1 Stickler syndrome in this age group.
It is also meant to be used in at-risk patients groups rather than the general population, such as children with a diagnosis of Perthes disease. However, despite these limitations, a high score offers some indication to patients, families and healthcare professionals that an individual may be affected by Stickler syndrome.
The screening tool can be used by patients to score themselves, with some clarification added below. However, this is only a screening tool to flag individuals who may require further professional assessment, and thus does not constitute a diagnosis.
Furthermore, some people who score highly on this tool will not have Stickler syndrome, whilst some with Stickler syndrome will not score highly. Anyone who is concerned about the following symptoms that may be impacting them and their family should consult their GP and/or local healthcare professional.
You may also score highly in this screening tool if you are diagnosed with another connective tissue disorder or genetic condition, and thus in these cases a high score does not mean you are likely to have Stickler syndrome in addition to this.
Myopia or short-sightedness refers to difficulty focusing on objects in the distance whilst still typically being able to make out objects closer (eg words when reading). Your glasses prescription will be negative and if you are unsure you might notice that your glasses lens makes your eyes look slightly smaller to other people.
Retinal detachment may cause sudden sight loss and require urgent surgical repair. The retina is the light sensitive film at the back of the eye and retinal detachment is a condition where the retina peels away from the inner wall of the eye. In most cases the retina detaches because a hole or a tear has formed in the retina allowing fluid to pass underneath the retina.
Family History of Retinal Detachment should be answered depending on the number of family members who have previously suffered from detachment. If exactly one individual in your family has suffered from detachment, then answer 'Yes'. Family history refers to those who are biologically related to you (i.e. blood relatives).
Family History of Retinal Detachment should be answered depending on the number of family members who have previously suffered from detachment. If two or more relatives (other than yourself) have suffered a detachment, then answer 'Yes'. Family history refers to those who are biologically related to you (i.e. blood relatives).
Cleft palate refers to a gap in the tissue in the middle of the roof of the mouth and is most commonly repaired surgically at an early age. You may have a cleft palate in conjunction with a diagnosis of Pierre Robin sequence, where babies have a small jaw, pushed back tongue and obstruction of the airway as a result. Individuals with Pierre Robin sequence should also answer 'Yes'.
High-arched palate and bifid uvula are changes in the roof of the mouth that are not quite as extensive as a cleft palate, but can occur as an alternative to it. If you do not have a cleft palate, you can look to see if you have either of these. There is no formal definition of a high-arched palate, however you may notice that the roof of your mouth is tall and narrow compared to other people. The uvula is the dangly bit at the back of your mouth, and sometimes is split into two at the end, known as a bifid uvula. Whilst this can be present in the general population, it can also be a sign of Stickler syndrome.
Cleft palate refers to a gap in the tissue in the middle of the roof of the mouth and is most commonly repaired surgically at an early age. You may have a cleft palate in conjunction with a diagnosis of Pierre Robin sequence, where babies have a small jaw, pushed back tongue and obstruction of the airway as a result. Individuals with Pierre Robin sequence should also answer 'Yes'.
Sensorineural hearing loss is a specific type of hearing loss due to reduced function of the inner ear or nerves leading from it. This question is thinking about hearing loss at a younger age rather than age-related hearing loss. The most common type of hearing loss is conductive, which can be due to issues with the eardrum or middle ear, most commonly in children due to glue ear. However, sensorineural hearing loss at a younger age is less common, and you would likely have had to have specific hearing tests to show this type of hearing loss was present. If you are worried about hearing loss, you can ask your GP or local hearing test centre to arrange an audiogram which can distinguish the different types of hearing loss.
Family history of deafness is referring to complete hearing loss in one or both ears at a younger age rather than age related hearing loss and deafness. Family history refers to those who are biologically related to you (i.e. blood relatives).
Spinal abnormalities refers to any of the diagnoses listed in the questionnaire, but you would need to have some form of spinal imaging to diagnose these, with the exception of scoliosis. Scoliosis refers to a sideways curvature of the spine (to the left or right when looking from the back) and is common in the population, but may be a sign of Stickler syndrome. Flattened vertebrae (platyspondyly) and end plate changes (irregular vertebral borders, sclerosis, disc space narrowing, and anterior cystic changes) may be identified on spinal imaging or incidentally. Kyphosis is excessive forward curvature of the spine and again likely to be identified by spinal imaging.
Family history of atraumatic total hip replacement aged <50 years aims to identify early onset arthritis and joint pain due to Stickler syndrome. Whilst many of the general population need a joint replacement as they get older, it is uncommon in those aged less than 50 years unless related to trauma. Family history refers to those who are biologically related to you (i.e. blood relatives).
Hypermobility is clinically scored using the Beighton score. A full explanation of the Beighton score can be found in the Ehlers-Danlos website. It is more common to display signs of hypermobility as a child and thus the score for a child is set to ≥6, but if you are an adult, then a score of ≥5 is significant, or a score of ≥4 if you are over the age of 50 years.
Hypermobility is clinically scored using the Beighton score. If this is something you are not familiar with, then you can instead test your elbow hyperextension. Hold out your arms as straight as you can and use a mirror to see if they bend backwards more than 10°.