The Dalglish Family 22q Clinic

General genetics describes the passing on of features from one generation to another.

Common symptoms

Multiple congenital anomalies

A number of body parts have been improperly formed

Learning disability/mental retardation/developmental delay

Trouble with gaining new knowledge, intellectual abilities, and/or skills

Poly-hydramnios

Too much amniotic fluid around the baby inside the tummy of the mother (the person with 22q11.2DS)

Management options

• Genetic counselling
• Medical management
• Gynaecological and contraceptive services

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Medical genetics
• Obstetrics and gynaecology

Cardiovascular describes structures that are heart related, either structures through which the blood exits the heart (conotruncal), or other structures of the heart.

Common symptoms

Any congenital defect

Any heart problems that individuals are born with

Major heart defect

Major heart problems requiring surgery

See also: Heart Series from the International 22q11.2 Foundation’s Health Conditions Explained.

Management options

• Echocardiogram (heart ultrasound)
• Irradiated blood products for infant surgeries
• Calcium level

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Cardiovascular surgery
• Cardiology

Palatal means related to the structure of the upper roof of the mouth.

Common Symptoms

Hypernasal speech (crying) and/or nasal regurgitation

The voice sounds like it is coming from the nose

Throwing up liquids through the nose

Velopharyngeal insufficiency ± submucous cleft palate

The soft muscle that separates the nasal cavity and the oral cavity does not close properly when talking

The roof of the mouth is split, but this split is covered by soft tissue and is not easily seen

Chronic and/or secretory otitis media

Middle ear infection that does not get better

Fluid collects in a middle ear without infection for a long time

Sensorineural and/or conductive hearing loss

Inability of the ear to detect sounds due to problems with the inner ear or the hearing nerve

Inability of the ear to detect sounds due to problems with the middle or outer ear

Management Options

• Speech therapy
• Palatal surgery

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Speech pathology
• Plastic surgery/Cleft palate team
• Otolaryngology (ear, nose, throat specialty)
• Audiology (hearing specialty)

Immune-related means related to the body’s ability to fight sicknesses.

Common symptoms

Recurrent infections

Getting sick often

T-cells low and/or impaired function

Decreased amount of a type of white blood cells

Decreased ability of these cells to fight sickness

Autoimmune diseases

The immune system attacking parts of the own body of the individual with 22q11.2DS

Management options

• Influenza vaccinations
• Special protocol for infants

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Immunology
• Rheumatology (bones, joints, and connective tissues specialty)
• Otolaryngology (ear, nose, throat specialty)
• Allergy
• Respirology (breathing specialty)

Endocrine means related to glands that produce hormones (tiny little chemicals that your body produces that have far-reaching effects in the body).

Common symptoms

Hypocalcemia and/or hypoparathyroidism

Low calcium levels in the blood

Low parathyroid hormone levels (which in turn lead to low calcium and phosphorus levels in the blood)

Hypothyroidism

Symptoms related to not having enough thyroid hormone

Hyperthyroidism

Symptoms related to having too much thyroid hormone

Obesity

Body weight is higher than ideal

Management options

• Vitamin D and calcium supplementation
• Growth hormone
• Dietary/exercise counselling

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Endocrinology
• Dietician

Gastroenterological related to the digestive system.

Common symptoms

Gastro-esophageal reflux

Stomach contents coming back up the esophagus

Dysmotility/dysphagia

Muscles in the gastrointestinal tract not working properly, so it takes longer time for food to pass through intestines

Trouble swallowing certain food and drink textures

Constipation

Difficulty in passing bowel movements

Cholelithiasis

Having gallstones (small deposits) in the gallbladder

Umbilical/inguinal hernia

A section of the gut goes through the belly button or the groin

Management options

• Tube feeding
• Nissen fundoplication (surgery that helps control the opening between the esophagus and the stomach, so that the stomach content does not come back up)

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Gastroenterology
• General surgery
• Feeding team
• Respirology

Genitourinary means related to genitals and urinary systems.

Common symptoms

Structural urinary tract anomaly

Structure involved in passing urine is not formed properly

Dysfunctional voiding

Not passing urine properly

Unilateral renal agenesis

Having only one kidney (the other kidney did not form)

Multicystic dysplastic kidneys

Kidneys having multiple “holes”

Management options

• Ultrasound
• Transplant

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Urology (urinary tract surgical specialty)
• Nephrology (kidney specialty)
• Gynaecology (female genital organ specialty)
• Radiology (medical imaging specialty)

Ophthalmology means related to the eye.

Common symptoms

Strabismus

The two eyes cannot work together to look at an object properly

Refractory errors

The eyes cannot focus properly

Posterior embyrotoxon, tortuous retinal vessels

Extra twisted blood vessels at the back of the eye

Management options

• Eye exam

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Ophthalmology

Skeletal means related to bones.

Common symptoms

Scoliosis (may require surgery)

Twisted spine

Cervical spine anomalies/thoracic butterfly vertebrae

Abnormal neck bones

Spine in the upper back did not form properly; looks like a butterfly on the x-ray

Idiopathic leg pains in childhood

Random leg cramps in children

Sacral sinus

Small hole at the mid-line of the bum

Management options

• Radiographs (x-rays or other imaging)
• Orthotics (support under the foot in the shoes)

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Orthopaedics (bone surgery specialty)
• Neurosurgery (brain and nerve surgery specialty)
• Radiology (medical imaging specialty)
• General surgery
• Hand surgery
• Physiotherapy

Hematology means related to blood, and oncology means related to cancer.

Common symptoms

Thrombocytopenia

Low platelets (component of blood that helps stop bleeding)

Splenomegaly

Large spleen (organ in the left upper side of the abdomen that filters blood)

Management options

• Surveillance (monitoring)

Neurologic means related to brain and nerve.

Common symptoms

Recurrent (often hypocalcemic) seizures

Frequent fits often due to having low calcium levels in blood

Unprovoked epilepsy

Frequent fits without cause

Management options

• Calcium, magnesium levels
• Electroencephalogram (measure of brain electrical activities)
• Magnetic resonance imaging

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Neurology

Common symptoms

Failure to thrive

Not growing well

Motor and/or speech delays

Delay in developing the skills for movement

Delay in learning to talk

Learning disabilities; mental retardation

Problems with learning and developing

Short stature

Having a height that is significantly below the average when compared to people of the same age and gender

Management options

• Early intervention
• Sign language
• Educational supports
• Vocational counselling (job related help)

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Developmental paediatrics (child development specialty)
• Speech language pathology
• Occupational/physical therapy
• Neuropsychology (brain behaviour, emotion, and cognition specialty)
• Educational psychology

Neuropsychiatric disorders means mental health problems.

Common symptoms

Psychiatric disorders

Mental health problems

Childhood disorders; e.g., attention-deficit hyperactivity disorder, autism spectrum disorders

Having very short attention span, easily distracted

Problems with social interactions, communication, and behaviour

Anxiety and depressive disorders

Excessive worries and negative feelings

Schizophrenia and other psychotic disorders

Mental health problems related to the distorted perception of reality

See also: Let’s Talk about Schizophrenia

Management options

• Surveillance
• Standard treatments

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Psychiatry (mental health specialty)
• Developmental paediatrics

Common symptoms

Non-infectious respiratory disease

Lung problems not related to infections

Seborrhea or dermatitis; severe acne

Skin problem; very bad zits

Patellar dislocation

Knee cap moved out of proper location

Dental problems—enamel hypoplasia/chronic caries

Teeth problem: weakness of the outer coating of teeth; cavities

Varicose veins

Dilated vessels that carry blood to the heart

Specialties commonly involved (in addition to family medicine, pediatrics, general internal medicine, radiology)

• Respirology/Pulmonary (lung specialty)
• Anesthesia (specialty that deals with pain relief during surgeries)
• Dermatology (skin specialty)
• Rheumatology (bone, joint, and connective tissue specialty)
• Orthopaedics (bone surgery specialty)
• Dentistry (teeth and supporting structures specialty)
• Vascular surgery (blood vessel surgery specialty)