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Using Artificial Intelligence to Diagnose Developmental Disorders in Children

Developmental disorders are health problems that affect children and prevent them from developing normally in terms of height, weight, sexual maturity, or other characteristics. Sometimes too slow or too fast 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 is when a child falls below or above the average end of the developmental range for their age, gender, family history, or ethnic background. The causes are many, but they usually fall into one of the following groups: familial short or tall stature, meaning the child's height is part of the inherited short or tall stature in his family, or delayed growth and puberty. It means that the child is shorter than average. He is growing at a normal rate and puberty is later than average. It can be inherited and the child catches on in time and reaches normal adult height.

There are systemic diseases that affect the whole 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 essential 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.

Apart from Saudi Arabia, we will review here the most important developments in endocrine disorders and pediatric rare diseases in the light of recent discussions with eminent doctors and speakers from Britain, Germany and Italy. Speakers during the “News of Common Endocrine Disorders and Rare Diseases” conference, “In Children”, concluded his 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” conducted in hospitals and centers in 14 countries. In the world, this is a non-interventional screening and observational study designed to assess the safety and efficacy of long-term treatment with Omnitrope (somatropin) in infants, children and adolescents requiring growth hormone therapy.

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 efficacy and safety of this treatment, says Professor Favel. rhGH products are used for several indications in children, including growth hormone deficiency (GHD), Turner syndrome (TS), short gestational age (SGA), chronic renal failure (CRI), and Prader-Willi syndrome. Omnitrope was the first product approved through the biosimilar regulatory pathway, given approval based on quality, safety and efficacy similar to the reference product (Genotropin®, Pfizer).

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The study population included infants, children, and adolescents receiving Omnitrope. As of 2018, 6,009 patients from 298 centers in 14 countries around 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 therapy at study entry.

After 10 years of treatment in patients unaware of growth hormone therapy, the odds ratio was +1.85 in growth hormone deficiency, +1.76 in small-for-gestational birth, and +1.0 in Turner syndrome. Overall, 912 (17.9%) patients achieved adult height.

This analysis of the PATRO Children's Study indicates that biosimilar recombinant human growth hormone (rhGH) is well tolerated and effective in real-world clinical practice.

Using artificial intelligence

* Artificial intelligence (AI) in the treatment of growth hormone deficiency.. Professor Martin Savage, William Harvey Research Institute, Barts and Emeritus Professor of Pediatric Endocrinology, London School of Medicine, Queen Mary, University of London, UK, gave a lecture on “Maximizing outcomes for pediatric patients with growth hormone therapy”. For pediatric patients treated with rhGH by Holistic Ecosystem. He noted that growth hormone (hGH) therapy is approved for several developmental disorders, including growth hormone deficiency (GHD), Turner syndrome (TS), short gestational age (SGA) and, in some countries, growth disorders. Unknown nature, cause. He discussed whether artificial intelligence (AI) could be used to contribute to patient care and achieve results in the “therapeutic” phases of growth hormone.

In Finland, early height screening is a very effective method, with significant investment in primary care nurses to measure children approximately 20 times between birth and adult height. Height data are entered into a pre-programmed electronic system to study height deviations (SDS), median parent height and growth velocity. If a variable is abnormal, it is reported. This method led to earlier diagnosis of celiac disease, Turner syndrome and growth hormone deficiency and was more efficient than the standard recommendation for short height. Artificial intelligence can be used to assess short stature by asking families to complete pre-designed questionnaires. Physical examination can detect facial abnormalities using AI, but it needs to outperform an experienced doctor to become a viable alternative.

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High-quality hormone testing to detect growth hormone levels requires accurate medication. After a growth hormone-dependent disorder is diagnosed, the use of a numerical height prediction model can be useful for determining growth hormone levels.

Monitoring adherence to growth hormone therapy is of fundamental importance and growth response is directly influenced by adherence status. 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 care. This data provides a basis for investigating cases of poor adherence between patient and healthcare professional. HCPs will also benefit from a digital patient support system. Electronic data exchange between patient and healthcare provider provides a digital ecosystem that directly improves patient support and improves growth hormone therapy adherence and patient response.

Professor Savage urges healthcare providers to embrace digital innovation to deliver high-quality precision medicine. However, AI cannot measure emotions and 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 are critical in the overall management of a child receiving growth hormone therapy.

Panel of Speakers and Chairs of Scientific Sessions

structural defect

* Updates on achondroplasia care. How can treatment strategies be improved? Professor Muhammad Al-Mughani, MD, Professor of the Department of Pediatrics (Gianina Caslini, Neurology, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health at the University of Genoa, Italy) spoke about the most common type of achondroplasia. Skeletal dysplasia, whose prevalence is estimated at about 1:22,000 live births and affects more than 250,000 people worldwide. This condition is caused by a polygenic mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in reduced osteochondral growth.

As a result of this condition, individuals with achondroplasia suffer from a variety of clinical manifestations, the most notable of which is severe short stature; On average, the height of adult patients of both sexes is 6.0 standard deviation scores (SDS) below the mean of unaffected individuals. Other clinical manifestations include disproportionately short limbs, macrocephaly, microthoraces, and interfacial retardation. In addition, individuals typically experience 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 result in neurological complications and even sudden death in infancy as a result of brainstem compression.

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In addition to physical problems, studies have shown that compared to unaffected individuals, individuals with achondroplasia have reduced quality of life and functioning, as well as lower self-esteem, depression, and anxiety. Lifetime Impact of Achondroplasia Study Individuals with achondroplasia experience severe complications throughout their lives, resulting in higher healthcare resource needs and lower quality of life compared to an unaffected reference population.

What's new in the treatment of achondroplasia is that the US Food and Drug Administration has approved for the first time the drug Voxcogo (Vosoridide), the first approved precision medicine for the treatment of achondroplasia. The drug has also been approved by 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 dystrophy

* Updates in the management of spinal muscular atrophy. Dr. Nahla Mohammed Al-Sheikh – MD, Assistant Professor, Pediatric Neurology, Neuromuscular Disorders, Department of Pediatric Neurology, King Abdulaziz Medical City, Ministry of National Defense, and Ministry of Health Affairs. , spoke at the conference – Spinal Muscular Atrophy (SMA) is an autosomal recessive degenerative neuromuscular disease that affects lower motor neurons. It is primarily characterized by progressive weakness and wasting of 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, with significant changes in the natural history of the disease, improving survival time and quality of life, creating new challenges, and using new disease-modifying therapies. Goals..

Several metabolic and endocrine changes are commonly identified in SMA patients during childhood and adolescence. Therefore, the medical care of these patients requires a pediatric-appropriate multidisciplinary approach, with special emphasis on preventing the most common complications. This narrative review will provide the clinician with a comprehensive view of the critical elements to consider for the standard clinical care of these patients.

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