Using artificial intelligence in the diagnosis of developmental disorders in children
Growth disorders are health problems that affect children and prevent them from developing normal height, weight, sexual maturity, or other characteristics. Sometimes very slow or very rapid growth can 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 occurs when a child is below or above the average limit of the developmental range for his or her age, gender, family history, or ethnic background. The reasons are many, but they usually fall into one of these groups: familial short or tall stature, meaning the child’s height is part of a pattern of short or tall height inherited in his or her family, or delayed growth and development pubertal, which means that the child tends to be shorter than average and enters puberty later than average, despite growing at a normal rate. This can be inherited and the child tends to catch up and reach normal height as an adult.
There are systemic diseases that can affect the entire body and cause developmental problems such as persistent malnutrition, gastrointestinal disease, kidney disease, heart disease, lung disease, diabetes or severe chronic stress.
There are endocrine (hormone) diseases, including thyroid hormone, which is necessary for normal bone growth and secreted by the pituitary gland located at the base of the brain. There are genetic diseases, such as Turner syndrome, Down syndrome and achondroplasia.
Here we will look at the most important developments in endocrine disorders and rare diseases to which children are exposed, in light of what has recently been discussed with a number of distinguished doctors and speakers in this field from Great Britain, Germany and Italy, as well as to Saudi Arabia. speakers during the conference “News in common endocrine disorders and rare diseases” and “In children”, which concluded its proceedings on Saturday evening, January 20, 2024, in Jeddah.
Guests of the conference
Results of recent studies
*Recombinant human growth hormone. Professor Roland Pfaffle, consultant pediatrician (Oberarzt) and deputy director of the University Children’s Hospital in Leipzig, Germany, spoke about the results of the recent global study “PATRO Children” conducted in hospitals and centers specializing in endocrine disorders in 14 countries around the world. world, this is a non-interventional observational and screening study designed to evaluate the safety and effectiveness of long-term treatment with Omnitrope (somatropin) in infants, children and adolescents requiring 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 and 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 kidney disease (CRI) and Prader-Willi syndrome. Omnitrope was the first product ever to be approved through the biosimilar regulatory pathway, with approval granted based on similar quality, safety and efficacy to the reference product (Genotropin®, Pfizer).
The study population included infants, children and adolescents treated with Omnitrope. In 2018, 6,009 patients from 298 centers in 14 countries around the world were enrolled in the PATRO pediatric program. Adverse events (AEs) were monitored for safety, and the 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, improvement was +1.85 in growth hormone deficiency, +1.76 in children 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 study indicated that biosimilar recombinant human growth hormone (rhGH) is well tolerated and effective in real-world clinical practice.
Use of artificial intelligence
* Artificial Intelligence (AI) in the treatment of growth hormone deficiency. 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 ‘Maximising outcomes for pediatric patients with growth hormone therapy” 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), low height during pregnancy (SGA) and, in some countries, the short stature of the child. unknown nature the reason. He discussed whether artificial intelligence (AI) could be used to help care for patients and achieve results in the “treatment” phases of growth hormone.
In Finland, where early height screening is the most effective method, significant investments are being made in primary care nurses to measure children on around 20 occasions between birth and adult height. Height data is entered into a pre-programmed electronic system to study height deviations (SDS), average 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-defined questionnaires. A physical exam can use artificial intelligence to detect facial abnormalities, but it must perform better than an expert 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 dosing.
Monitoring adherence to growth hormone therapy is critically important and growth response is directly influenced 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 professional responsible for care. These data provide a basis for discussion between the patient and the healthcare professional to investigate cases of poor adherence. Healthcare workers 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 patient adherence and response to growth hormone treatment.
Professor Savage highlights that healthcare providers should embrace digital innovation to deliver high-quality precision medicine. However, AI cannot measure emotions and cannot establish a doctor-patient relationship or evaluate the quality of this relationship. Clinical skills such as eye contact and empathy for patients’ and families’ fears and concerns remain critical in the overall management of a child receiving growth hormone therapy.
Group of speakers and presidents of the scientific sessions
Structural defect
* Updates on the treatment of achondroplasia. How can we improve treatment strategies? Prof. Muhammad Al-Mughani, Professor of the Department of Pediatrics (Gianina Gaslini, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health of the University of Genoa, Italy) spoke about achondroplasia, being the most common form of skeletal dysplasia, as its prevalence is estimated at approximately 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 causes impaired osteochondral growth.
As a result of this condition, individuals affected by achondroplasia suffer from a number of clinical manifestations, the most notable of which is severe short stature; On average, adult patients of both sexes have a height standard deviation score (SDS) of 6.0 lower than the average of unaffected individuals. Other clinical manifestations include disproportionately short limbs, macrocephaly, microthorax, and midface recession. Additionally, individuals typically experience a variety 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 due to compression of the brainstem.
In addition to 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 variety of serious complications throughout their lives, resulting in greater demands on healthcare resources and a 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 the drug Voxzogo (vosoritide) for the first time, which is the first precision medicine approved for the treatment of achondroplasia. The drug also obtained approval from the European Medicines Agency. Clinical studies 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 Sciences of Jeddah Health , 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 mainly characterized by progressive weakness and atrophy of the limb, respiratory and bulbar muscles.
In recent years, the management of spinal muscular atrophy has moved 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 solutions. goals. .
Many metabolic and endocrine changes are commonly identified in SMA patients during childhood and adolescence. Therefore, a multidisciplinary approach adapted to the pediatric context is necessary in the clinical care of these patients, with particular attention to the 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 the standard clinical care of these patients.
2024-01-23 15:03:00
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