Each child should have an individual care plan. It is important that the individual care plan is designed to meet the unique needs of the patient. The plan should be routinely followed, monitored, and adjusted as needed.
The health check-ups in the acute and chronic phase may focus on the following:
Feeding
Feeding intolerance and cyclic emesis is common. According to medical literature, many children also require gastrostomy tubes due to aspiration and/or an inability to take adequate calories orally or/and cleft lip/palate. Geneticists recommend that a treatment goal for these feeding difficulties should be to avoid unnecessary hospitalizations and surgery, if emesis can be controlled with alternative feeding strategies and treatment for cyclic vomiting. Gastric dysmotility related to hypotonia could be considered a cause of chronic emesis. Genetic literature suggests that feeding difficulties improve with age, which implies that gastrostomy tubes may not be required throughout life.[2]
Gastroenterologie
Complex gastroenterology problems: Malrotation and Constipation. The symptoms are often vague and episodic, making the difficult for the parent to express and difficult for the doctor to interpret. It is important for the doctor to realize that these problems can occur in children with Bohring-Opitz Syndrome.
Cleft lip/palate
Treatment usually consists of a combination of surgery, speech therapy, and dental correction. This treatment can begin at an age of three months, depending on the medical condition of the child. Cleft lip and palate issue make feeding extra difficult. A cleft lip and palate team can help parents with adaptive feeding devices and advise with feeding therapy.
Respiratory issues
Respiratory infections and reactive airway disease are common in patients with Bohring-Opitz Syndrome. Often care during the early years is centred on the management of multiple severe respiratory infections. Treatment goals have been noted to include reducing the risk of aspiration and treating possible reactive airway disease with prophylactic inhaled corticosteroids. The occurrence of respiratory infections may improve with age.[3]
Heart
Checking for signs of heart problems is important.
Wilms tumor
Recent medical literature documents the reasonable need to consider an abdominal ultrasound every 3–4 months in the first 8 years of life for patients with BOS.[4]
Vision
High myopia with prominent eyes is a characteristic of children with Bohring-Opitz Syndrome. Regular eye exams with an ophthalmologist (eye specialist) are essential to diagnose and treat eye problems early.
Hearing
Often children with Bohring-Opitz have significant hearing loss. Ear infections are common, although many parents report that these are difficult to determine.
UTI
UTI (Urinary tract infections) Some children suffer from recurrent urinary tract infections, and may require prophylactic antibiotic treatment and/or intermittent catheterization to relieve urine retention.
Neurology
Brain abnormalities, such as agenesis of corpus callosum and seizures have been noted in children with Bohring-Opitz Syndrome.
Sleep
Sleeping disturbance (Insomnia): Bohring-Opitz children experience insomnia which often has a dramatic effect on families. Medical literature suggests that the use of Melatonin provides some improvement. It has also been noted that the treatment of anaemia with ferrous sulphate in some patients has also improved sleep disturbances. Treatment for obstructive sleep apnea by mandibular distraction and CPAP may be beneficial in some children.[5]
Growth
Children with Bohring-Opitz Syndrome are often smaller due intrauterine growth restriction and feeding difficulties. Regular measuring height and weight should be made during the first two years of life, and then annually throughout childhood, and on a regular basis in adulthood. This measurement data should be recorded on the specific growth charts. To date, there is no specific growth chart for children with Bohring-Opitz Syndrome. In 2015 we gave parents and caregivers of children with BOS, who are united in our support group, the opportunity to contribute to an online survey “Growth Charts for Children with Bohring-Opitz Syndrome.” The results you read here: »Growth Charts for Children with Bohring-Opitz Syndrome
Skeletal
Annual check-ups with an orthopaedist (bone specialist) may be needed to look for changes in spine and breastbone structures. Scoliosis, due hypotonia, is common in children with Bohring-Opitz Syndrome. Fixed contractions of the upper limbs (BOS-posture[6]) and hip dysplasia need to be monitored.
[2] Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan W-H, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Schrier Vergano SA, Helm BM, Harrison RE, GrahamJr. JM. 2015. Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet Part A 9999A:1–10.
[3] Ibid.
[4] Ibid.
[5] Ibid.
[6] BOS posture of the upper limps (defined as having three out of four features: exorotation and/or adduction of the shoulders; flexion at the elbows; flexion at the wrists; and ulnar deviation of the wrists and/or fingers at the metacarpophalangeal (MCP) joints) (Hasting et al. 2011)
Bohring-Opitz Syndrome 