This module is completed when entering the patient registry and again annually to collect information on symptoms related to Angelman syndrome such as Reflux, constipation, strabismus etc.
| No | Code | Question | Response |
MedNewFol | Is this the first time you are completing this module? | 1 – Yes, first time; 2 – No, follow up | |
| B.1.1 | 12MoMedIll | Has there been any changes to the following medical conditions in your child/ adult in the last 12 months? | 1 – Gastrointestinal reflux; 2 – Constipation; 3 – Vomiting with feeds; 4 – Gagging; 5 – Pneumonia; 6 – Strep throat; 7 – Toe walking; 8 – Tight heel cords; 9 – Scoliosis; 10 – Dental problems ; 11 – Obesity; 12 – Tube feeding; 13 – Strabismus; 14 – Cortical visual impairment; 15 – Ear infections (Otis media); 16 – Auditory processing disorders; 17 – Cortical myoclonus (tremors); 18 – Diagnosed allergies; 19 – Intolerances; 20 – Other |
| B.1.2 | 12MoActFood | Has there been any changes to the following in your child/ adult? |
3.1 Gastrointestinal Problems – Has your child/adult ever experienced any of the following: (GastrointestinalProblems)
| No | Code | Question | Response |
| 3.3.1a | ANGGastroesophagealReflux2 | Gastroesophageal reflux? | 1 – None; 2 – Never formally diagnosed, but compatible history; 3 – Yes, diagnosed |
| 3.3.2 | ANGGastroesophageal | What is the current status of their gastroesophageal reflux? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.3.3a | ANGGastroRefluxDiagnosed2 | What was their age at diagnosis? | |
| 3.3.5 | ANGGastroRefluxDiagnosedSever | What is the severity? | 1 – Mild; 2 – Moderate; 3 – Severe; 4 – Varied; 5 – Unknown |
| 3.3.6 | ANGGastroRefluxDiagnosedTreat | Was medical treatment required? | 1 – Yes; 2 – No; 3 – Unknown |
| 4.3.7 | ANGGastroRefluxDiagnosedSurg | Was surgical treatment required? | 1 – Yes; |
| 3.3.8a | ANGGastroRefluxRecurred2 | What was their age at which the gastroesophageal reflux recurred? | |
| 3.3.10 | ANGGastroRefluxResolvedSever | What is the severity when recurring? | 1 – Mild; 2 – Moderate; 3 – Severe; 4 – Varied; 5 – Unknown |
| 3.3.11 | ANGGastroRefluxRecurredTreatme | Was medical treatment required when recurring? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.3.12 | ANGGastroRefluxRecurredSurgey | Was surgical treatment required when recurring? (Please describe surgery in the Medical History and Hospitalisation module) | 1 – Yes; |
| 3.3.13a | ANGGastroRefluxResolved2 | What was their age when resolved? | |
| 3.4.1 | ANGEverConstipation | Constipation? | 1 – Yes all the time; 2 – Yes, most of the time; 3 – Yes, some of the time; 4 – Yes, rarely; 5 – No, never; 6 – Unknown |
| 3.4.2 | ANGMedConstipation Status | What is the current status of their constipation? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.4.3 | ANGConstipationSever | What is the severity during episodes? | 1 – Mild; 2 – Moderate; 3 – Severe; 4 – Varied; 5 – Unknown |
| 3.4.4 | ANGConstipationManage | How is the constipation (or regular bowel function) managed? (check all that apply) | 1 – Dietary; 2 – Medication; 3 – Other |
| 3.4.5 | ANGConstipationOth | Please specify. | |
| 3.5.1 | ANGVomitingWithFeeds | Vomited with feeds (after 12 months of age)? | 1 – Yes, all the time; 2 – Yes, most of the time; 3 – Yes, some of the time; 4 – Yes, rarely; 5 – No, never; 6 – Unknown |
| 3.5.2 | ANGVomitingWithFeeds Status | What is the current status of their vomiting with feeds? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.5.3 | ANGVomitingWithFeeds Medical | Was medical treatment required? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.5.4 | ANGVomitingWithFeedsSurgery | Was surgical treatment required? | 1 – Yes; |
| 3.6.1 | ANGGagging | Gagging (after 12 months of age)? | 1 – Yes all the time; 2 – Yes, most of the time; 3 – Yes, some of the time; 4 – Yes, rarely; 5 – No, never; 6 – Unknown |
| 3.6.2 | ANGGaggingStatus | What is the current status of their gagging? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; |
| 3.6.3a | ANGGaggingSituations | Please indicate the situation/s when gagging occurs | 1 – Eating/ Feeding/ Drinking; 2 – Mornings/ after sleeping; 3 – Sensory ; 4 – Emotional situations ; 5 – Illness ; 6 – Taking medication; 7 – Seizure; 8 – Brushing teeth; 9 – Infancy only 10 – Other |
| 3.6.3 | ANGGaggingYes | Please specify |
3.2 Throat/ Respiratory Problems – Has your child/adult ever experienced any of the following: (ThroatRespiratoryProblems)
| No | Code | Question | Response |
| 3.1.1 | ANGPneumonia | Pneumonia? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.1.2 | ANGMedPneumonia Status | What is the current status of their pneumonia? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.1.3 | ANGPneumonia | Was it related to aspiration? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.1.4 | ANGPneumoniaFreq | Please indicate the number of episodes per year | 1 – One off episode; 2 – 1-2 episodes ; 3 – 3 or more episodes |
| 3.1.5 | ANGPneumoniaSever | What is the severity during episodes? | 1 – Mild; 2 – Moderate; 3 – Severe; 4 – Varied; 5 – Unknown |
| 3.2.1 | ANGStrepThroat | Strep throat? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.2.2 | ANGMedStrepThroat Status | What is the current status of their strep throat? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.2.3 | ANGStrepThroatFreq | Please indicate the number of episodes per year | 1 – One off episode; 2 – 1-2 episodes ; 3 – 3 or more episodes |
| 3.2.4 | ANGStrepThroatSever | What is the severity during episodes? | 1 – Mild; 2 – Moderate; 3 – Severe; 4 – Varied; 5 – Unknown |
3.3 Musculoskeletal Problems – Has your child/adult ever experienced any of the following: (MusculoskeletalProblems)
| No | Code | Question | Response |
| 3.7.1 | ANGToeWalking | Toe walking? | 1 – Yes all the time; 2 – Yes, most of the time; 3 – Yes, some of the time; 4 – Yes, rarely; 5 – No, never; 6 – Unknown |
| 3.7.2 | ANGToeWalkingStatus | What is the current status of their tight heel cords/ toe walking? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.7.3 | ANGToeWalkingTreatment | Please indicate any treatments used (Check all that apply. Please describe surgery in the Medical History and Hospitalisation module) | 1 – Ankle-foot orthosis ; 2 – Surgery; 3 – Physical therapy;4 – No treatment |
| 3.7.1a | ANGTightHeelCords | Tight heel cords? | 1 – Yes all the time; 2 – Yes, most of the time; 3 – Yes, some of the time; 4 – Yes, rarely; 5 – No, never; 6 – Unknown |
| 3.7.2a | ANGTightHeelStatus | What is the current status of their tight heel cords? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.7.3a | ANGTightHeelTreatment | Please indicate any treatments used (Check all that apply. Please describe surgery in the Medical History and Hospitalisation module) | 1 – Ankle-foot orthosis (AFO); 2 – Surgery; 3 – Physical therapy; 4 – No treatment |
| 3.8.1 | ANGSCOLIOSIS | Does (or did) the individual exhibit scoliosis (curvature of the spine)? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.8.3 | ANGScoliosisTreatmentUsed | If yes to scoliosis, please indicate any treatments used (Check all that apply) | 1 – Observation; 2 – Backbrace; 3 – Surgery; 4 – Other |
| 3.8.4a | ANGAgeScoliosisDiagnosed2 | What was their age at diagnosis? | |
| 3.8.6a | ANGAgeBracingYears2 | What was their age when bracing was commenced? | |
| 3.9.1 | ANGDentalProblems | Does (or did) the individual with Angelman Syndrome have any dental problems? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.9.2 | ANGDentalProblems Status | What is the current status of their dental problems? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.9.3a | ANGDentalProblemsFillings | Please indicate the number of fillings | 1 – None, 2 – 1-4, 3 – 5-9, 4 – More than 10 |
3.4 Nutrition and Feeding – Has your child/adult ever experienced any of the following: (NutritionFeeding)
| No | Code | Question | Response |
| 3.10.1a | ANGOverweight | Overweight? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.10.1 | ANGObesity | Classified as obese? For a definition of obesity, please visit: https://www.who.int/dietphysicalactivity/ childhood_what/en/ | 1 – Yes; 2 – No; 3 – Unknown |
| 3.10.2 | ANGObesityStatus | What is the current status of their obesity? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.10.3a | ANGObesityAge2 | Please indicate the age of onset | |
| 3.11.1 | ANGFailuretoThrive | Food refusal/ failure to thrive over 12 months of age? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.11.2 | ANGFailuretoThrive Status | What is the current status of their failure to thrive? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.11.3a | ANGFailureToThriveOnsetYears2 | What was their age at onset of failure to thrive? | |
| 3.11.6a | ANGFailureToThriveYears2 | What was the duration of failure to thrive? | |
| 3.12.1 | ANGTubeFed | Tube feeding (after 12 months of age)? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.12.2 | ANGTubeFedStatus | What is the current status of their tube feeding? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.12.3 | ANGTubeFedYesType | Please indicate the type used (Check all that apply) | 1 – NG tube; |
| 3.12.4a | ANGTubeFedYears2 | What was the duration of tube feeding? | |
| 3.12.7 | ANGTubeYesReason | Please indicate the reason for placement (Check all that apply) | 1 – Inability to feed orally as infant; |
| 3.12.8 | ANGTubeHow | Please indicate how they are tube fed (Check all that apply) | 1 – Medications; 2 – Nutrition using bolus feeds; 3 – Nutrition using overnight feeds |
| 3.12.9 | ANGTubeComplications | If there were complications with tube feeding, please describe | |
| 3.10.5 | ANGObesityHeight | What is your child/ adult’s current height in metres/metres? (metres/meters – imperial to metric converter: https://www.metric-conversions.org/length/feet-to-meters.htm) | |
| 3.10.8 | ANGObesityWeight | What is your child/ adult’s current weight in kg? (kg – – imperial to metric converter: https://www.metric-conversions.org/weight/pounds-to-kilograms.htm) | |
| 3.10.10 | ANGBMImetric | BMI | Calculated |
| 3.10.12 | ANGObesityActivity | Please describe their activity level. | 1 – Decreased; 2 – Increased; 3 – Normal; 4 – Unknown |
| 3.10.13 | ANGObesityExcessiveIntake | Please describe their food intake. | 1 – Decreased; 2 – Increased; 3 – Normal; 4 – Unknown |
| 3.10.14 | ANGObesityFoodSeeking | Does they exhibit food seeking behaviours? | 1 – Yes, all the time; 2 – Yes, most of the time; 3 – Yes, some of the time; 4 – Yes, rarely; 5 – No, never; 6 – Unknown |
3.5 Sensory Problems – Has your child/adult ever experienced any of the following: (SensoryProblems)
| No | Code | Question | Response |
| 3.13.1 | ANGStrabismus | Strabismus ? Strabismus is a vision condition in which a person can not align both eyes simultaneously under normal conditions. One or both of the eyes may turn in, out, up or down. An eye turn may be constant or intermittent . | 1 – Yes; 2 – No; 3 – Unknown |
| 3.13.2 | ANGStrabismusStatus | What is the current status of their strabismus? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.13.3 | ANGStrabismusTreatment | Please indicate any treatments used (Check all that apply. Please describe surgery in the Medical History and Hospitalisation module) | 1 – Glasses; 2 – Patching; 3 – Surgery; 4 No treatment; 5 – Other |
| 3.13.5 | ANGStrabismusRecurTreat | Were recurrences of strabismus treated? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.13.6 | ANGMedCortical | Cortical visual impairment? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.13.7 | ANGMedCorticalStatus | What is the current status of their cortical visual impairment? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.14.1 | ANGOtitisMedia | Ear infections (otitis media)? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.14.2 | ANGOtitisMediaStatus | What is the current status of their otitis media? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.14.3 | ANGOtitisMediaYes | Please indicate the number of episodes per year | 1 – One off episode; |
| 3.14.4 | AngMedHearing | Have they ever had their hearing tested? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.14.5 | ANGHearingResult | What were the results? | 1 – Typical/Normal; 2 – Abnormal; 3 – Unknown |
3.6 Neurological Problems – Has your child/adult ever experienced any of the following: (ANGNeurological)
| No | Code | Question | Response |
| 3.15.1 | AngMedAuditory | Auditory processing disorders? (Auditory processing disorder (APD) is a hearing problem that affects about 5% of school-aged children. Children with this condition can’t process what they hear in the same way other children do because their ears and brain don’t fully coordinate) | 1 – Yes; 2 – No; 3 – Unknown |
| 3.15.2 | ANGMedAuditoryStatus | What is the current status of their auditory processing disorders? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.15.3 | AngMedCorticalMyoclonus | Cortical myoclonus (tremors)? | 1 – Yes; 2 – No; 3 – Unknown |
| 3.15.4 | ANGMedCorticalMyoclonusStatus | What is the current status of their cortical myoclonus? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.15.5a | ANGMedCorticalOnsetYears2 | What was their age at onset of cortical myoclonus? | |
| 3.15.8 | ANGMedCorticalSeverity | What is the severity? | 1 – Mild; 2 – Moderate; 3 – Severe; 4 – Varied; 5 – Unknown |
3.7 Allergies and Intolerances – Has your child/adult ever experienced any of the following: (ANGIntolerances)
| No | Code | Question | Response |
| 4.1.1 | ANGAllergies | Diagnosed allergies? (An allergy occurs when a person’s immune system reacts to substances in the environment that are harmless for most people. These substances are known as allergens and are found in house dust mites, pets, pollen, insects, moulds, foods and some medicines.) | 1 – Yes; 2 – No; 3 – Unknown |
| 4.1.4 | ANGMedAllergieStatus | What is the current status of their allergies? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 4.1.2 | ANGAllergiesType | Please indicate the types of allergies | 1 – Dairy products; 2 – Gluten or wheat; 3 – Egg; 4 – Nuts; 5 – Sugar; 6 – Other food; 7 – Environmental triggers; 8 – Seasonal; 9 – Medications; 10 – Insect bites or stings; 11 – Other |
| 4.1.3 | ANGAllergySpecify | Please specify details of allergies | |
| 4.2.1 | ANGIntolerances | Intolerances? (Intolerance is an inability to eat a food or take a drug without adverse effects. Unlike an allergy, it does not involve the immune system or cause severe allergic reactions such as anaphylaxis.) | 1 – Yes; 2 – No; 3 – Unknown |
| 4.2.3 | ANGMedIntolerance Status | What is the current status of their intolerances? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 4.2.2a | ANGIntoleranceType | Please indicate the types of intolerances (Check all that apply) | 1 – Dairy products; 2 – Gluten or wheat; 3 – Egg; 4 – Nuts; 5 – Sugar; 6 – Other food; 7 – Environmental triggers; 8 – Seasonal; 9 – Medications; 10 – Insect bites or stings; 11 – Other |
| 4.2.2 | ANGIntolerancesDetails | Please specify details of intolerances |
3.8 Other Medical Conditions (ANGOther)
| No | Code | Question | Response |
| 3.16.1 | AngMedConditionYes1 | Has your child/ adult had any other medical conditions that have not been covered? | 1 – Yes; 2 – No |
| 3.16.2 | AngMedCondition1 | If yes, what is the condition? | |
| 3.16.3 | ANGMedCondition1Status | What is the current status of this condition? Please indicate the current status of this medical condition in your child/ adult. | 1 – Currently experiencing; 2 – Intermittently experiencing/ episodic; 3 – Resolved; 4 – Unknown |
| 3.16.4a | ANGMedOnsetYears1a | What was the age at onset of the condition? | |
| 3.16.7 | ANGMedSeverity1 | What is the severity, if applicable? | 1 – Mild; 2 – Moderate; 3 – Severe; 4 – Varied; 5 – Unknown |
| 3.16.9 | ANGMedRecurFreq1 | If episodic or recurring, how often does the condition recur? | 1 – One off episode; |
| 3.16.10 | ANGMedOtherComment1 | Do you have any other comments about this condition? |
