2024-01-23 17:08:00
Employing artificial intelligence in diagnosing developmental disorders in children
Growth disorders are health problems that affect children and prevent them from developing their height, weight, sexual maturity, or other characteristics normally. Sometimes very slow or very rapid growth may indicate a problem or disease in the gland. The pituitary gland produces growth hormone, which stimulates the growth of bones and other tissues.
A developmental problem is when a child falls either below or above the average end of the developmental range for his or her age, sex, family history, or ethnic background. The reasons are many, but they usually fall into one of the groups: familial short or tall stature, which means that the child’s height is part of a pattern of short or tall height inherited in his family, or delayed growth and pubertal development, which means that the child tends to be shorter than average. He enters puberty later than average, while growing at a normal rate. This may be inherited and the child tends to catch up in time and reach normal adult height.
There are systemic diseases that may affect the entire body and cause developmental problems such as persistent malnutrition, gastrointestinal disease, kidney disease, heart disease, lung disease, diabetes, or chronic severe stress.
There are endocrine diseases (hormones), including thyroid hormone, which is necessary for normal bone growth and is secreted by the pituitary gland located at the base of the brain. There are genetic disorders, such as Turner syndrome, Down syndrome, and achondroplasia.
Here we will review the most important developments in endocrine disorders and rare diseases to which children are exposed, in light of what was recently discussed with a number of distinguished doctors and speakers in this field from Britain, Germany, and Italy, in addition to Saudi speakers during the conference “News in Common Endocrine Disorders and Rare Diseases.” “In Children,” which concluded its work last Saturday evening, January 20, 2024, in Jeddah.
Conference guests
Results of recent studies
* Recombinant human growth hormone. Professor Roland Pfaffle, Consultant Pediatrician (Oberarzt) and Deputy Director, University Children’s Hospital – Leipzig, Germany – spoke about the results of the recent global study “PATRO Children” that was conducted in hospitals and centers specialized in endocrine disorders in 14 countries in the world, It is a non-interventional screening and observational study designed to evaluate the safety and effectiveness of long-term treatment with Omnitrope (somatropin) in infants, children and adolescents who require growth hormone treatment.
Professor Favel says that since the introduction of the first recombinant human growth hormone (rhGH), a large amount of data has been collected, from randomized controlled trials as well as observational studies, to determine the effectiveness and safety of these treatments. rhGH products are used to treat many indications in children, including growth hormone deficiency (GHD), Turner syndrome (TS), short stature of pregnancy (SGA), chronic renal insufficiency (CRI), and Prader-Willi syndrome. Omnitrope was the first product ever to be approved through the biosimilar regulatory pathway, with approval granted on the basis of quality, safety and efficacy similar to the reference product (Genotropin®, Pfizer).
The study population included infants, children, and adolescents receiving Omnitrope. As of 2018, 6,009 patients from 298 centers in 14 countries of the world have been enrolled in the PATRO Pediatric Program. Adverse events (AEs) were monitored for safety and efficacy of rhGH was assessed using country-specific height measurements and references.
Overall, 57.7% of patients had growth hormone deficiency (GHD), 25.8% were born small for gestational age (SGA), and 4.8% had Turner syndrome (TS). Overall, 84.1% of study participants were unaware of growth hormone treatment at study entry.
After 10 years of treatment for patients who were unaware of growth hormone therapy at study entry, the improvement was +1.85 in growth hormone deficiency, +1.76 in babies born small for gestational age, and +1.0 in Turner syndrome. In total, 912 (17.9%) patients reached adult height.
This analysis of the PATRO Children’s study indicated that biosimilar recombinant human growth hormone (rhGH) is well tolerated and effective in real-world clinical practice.
Employing artificial intelligence
* Artificial Intelligence (AI) in growth hormone deficiency care. Professor Martin Savage, Emeritus Professor of Pediatric Endocrinology at the William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary, University of London, UK, gave a lecture entitled “Maximizing Outcomes for Pediatric Patients with Growth Hormone Therapy” Maximizing Outcomes for Pediatric Patients with rhGH Treatment through the Holistic Ecosystem. He noted that growth hormone (hGH) therapy has been approved for a number of developmental disorders in children including growth hormone deficiency (GHD), Turner syndrome (TS), short stature in pregnancy (SGA), and in some countries, short stature of unknown nature. the reason. He discussed whether artificial intelligence (AI) could be used to contribute to patient care and achieve results in the “treatment” phases of growth hormone.
In Finland, where early height screening is the most effective method, significant investment is being made in primary care nurses to measure children on about 20 occasions between birth and adult height. Height data is entered into an electronic system pre-programmed to study height deviations (SDS), mid-parental height, and growth velocity. If a variable is abnormal, it will be reported. This system has led to earlier diagnosis of celiac disease, Turner syndrome, and growth hormone deficiency and is more efficient than standard referral for short stature. Artificial intelligence can be used to assess short stature by asking families to complete pre-designed questionnaires. A physical exam can use AI to detect facial abnormalities, but it must perform better than an experienced doctor to become a viable alternative.
Precision medicine is essential for high-quality hormone testing to determine growth hormone levels. After diagnosis of growth hormone-dependent disorder, the use of a numerical height prediction model will be useful for growth hormone dosage.
Monitoring adherence to growth hormone therapy is of fundamental importance and growth response is directly affected by the level of adherence. The most effective way to monitor adherence is to use an electronic injection device (Easypod) that records and stores each injection and transmits the injection data to the patient and the healthcare provider responsible for the care. These data provide a basis for discussion between the patient and healthcare professional to investigate cases of poor adherence. HCPs will also benefit from the digital patient support system. Electronic data exchange between patient and healthcare provider provides a digital ecosystem that can directly enhance patient support and improve adherence and patient response to growth hormone treatment.
Professor Savage emphasizes that healthcare providers should embrace digital innovation to deliver high-quality precision medicine. However, AI is unable to measure emotions and cannot establish a doctor-patient relationship or assess the quality of this relationship. Clinical skills such as eye contact and empathy for the fears and concerns of patients and families remain critical in the overall management of a child receiving growth hormone therapy.
Group of speakers and chairs of scientific sessions
Structural defect
* Updates on achondroplasia care. How do we improve treatment strategies? Professor Muhammad Al-Mughni, MD, Professor of the Department of Pediatrics (Gianina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health at the University of Genova, Italy) spoke about achondroplasia, being the most common type of skeletal dysplasia, as its prevalence is estimated at about 1:22,000 live births and affects more than 250,000 people worldwide. This condition is caused by a heterozygous pathogenic variant in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene, which results in impaired osteochondral growth.
As a result of this condition, individuals with achondroplasia suffer from a range of clinical manifestations, the most notable of which is severe short stature; On average, adult patients of both sexes have a height 6.0 standard deviation scores (SDS) lower than the average of unaffected individuals. Other clinical manifestations include disproportionately short limbs, macrocephaly, microthoraces, and midface recession. In addition, individuals typically experience a range of serious medical and surgical complications throughout their lives including neurological, orthopedic, cardiorespiratory, ear, nose, throat, and dental problems. Stenosis of the foramen magnum is often present at birth and, in the absence of timely surgical intervention, can lead to neurological complications and even sudden death in childhood as a result of brainstem compression.
Besides physical complications, studies show that individuals with achondroplasia experience decreased quality of life and function compared to unaffected individuals, as well as lower self-esteem, depression, and anxiety. The Lifelong Impact of Achondroplasia study indicates that individuals with achondroplasia experience a range of serious complications throughout their lives resulting in higher health care resource needs and lower quality of life compared to unaffected reference populations.
What is new in the treatment of achondroplasia is that the US Food and Drug Administration has approved for the first time the drug Voxzogo (vosoritide), which is the first approved precision medicine for the treatment of achondroplasia. The drug also received approval from the European Medicines Agency. Clinical trials have shown that vosoritide is effective in significantly increasing annual growth velocity in children with achondroplasia before epiphyseal fusion.
Spinal muscular atrophy
* Updates in the management of spinal muscular atrophy. Dr. Nahla Mohammed Al-Sheikh – MD, Assistant Professor, Consultant in Pediatric Neurology, Neuromuscular Disorders, Department of Pediatric Neurology, King Abdulaziz Medical City, Ministry of National Guard, and Health Affairs at King Saud bin Abdulaziz University for Health Sciences in Jeddah, spoke at the conference. – About spinal muscular atrophy (SMA) and that it is an autosomal recessive degenerative neuromuscular disease that affects the lower motor neurons. It is primarily characterized by progressive weakness and wasting of the limb, respiratory, and bulbar muscles.
In the past few years, the management of spinal muscular atrophy has shifted from a palliative to a proactive approach using new disease-modifying therapies that have significantly altered the natural history of the disease, improving survival time and quality of life and creating new challenges and goals. .
Many metabolic and endocrine changes are commonly identified in patients with SMA during childhood and adolescence. Therefore, a pediatric-appropriate multidisciplinary approach is needed in the clinical care of these patients, with special emphasis on prevention of the most common complications. This narrative review will provide the clinician with a comprehensive view of the critical elements that should be considered for standard clinical care of these patients.
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