Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?

Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, dysmorphic facial features, brachydactyly, symphalangism and cutis laxa. Nineteen cases have been reported in the literature so far, eleven of them with PTDSS1 mutations. Although studies have had clinically similar findings, in some cases the authors have reported even rarer features such as hydrocephalus, facial paralysis, and cleft palate. We, hereby, report the case of the first patient with Lenz-Majewski syndrome (LMS) with molecular confirmation from Turkey. Although our patient had characteristic features described in the literature, she also had immunodeficiency, which has not been reported before. Although there is no established phenotype-genotype correlation, molecular mechanisms can be explained with the reporting of more patients.

Case of twin achondroplasia and autism coexistence and literature review.

Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with chromosomal abnormalities such as Down syndrome, monogenic syndromes such as tuberous sclerosis, Fragile X, and Rett syndrome, and microdeletion syndromes such as Phelan-McDermid syndrome helps to shed light on the genetic basis of autism spectrum disorder. The association between ASD and achondroplasia has been reported twice in the literature. In this article, we report Turkish patients who were born as identical twins from IVF pregnancy of 34 and 36-year-old parents, clinically and molecularly diagnosed with achondroplasia, and diagnosed with ASD at the age of 39 months. Our case is the first twin patient with the coexistence of achondroplasia and autism. We discuss environmental and genetic factors contributing to the development of ASD.

The relationship between the use of digital display devices and headphones and primary headaches in children.

BACKGROUND: Headache represents the most common neurologic symptom in children. In this study, we investigated the relationship between watching television, listening to music with headphones, smartphone, tablet, and computer use, and primary headaches in children. We aimed to determine whether primary headache in children is associated with excessive use of digital display devices and headphones and whether reducing the use of digital display devices and headphones affects primary headache. METHODS: The study included 69 children with primary headaches and 64 with no headaches as a control group. All subjects were evaluated for demographic and headache characteristics and the use of digital display devices and headphones. Our recommendation for patients and families was to decrease the use of digital display devices and headphones, and the headache burden was re-evaluated after one month. RESULTS: Headache frequency was more common in patients who watched television and used smartphones or tablets for more than 6 hours per day. Using a smartphone or tablet for more than 3 hours daily was more common in the study group than the control group. Headache frequency decreased in all patients one month after the digital imaging device and headphones were restricted. CONCLUSIONS: Watching television and using a smartphone or tablet strongly associates with primary headaches during childhood.

INTRODUCCIÓN: La cefalea representa el síntoma neurológico más común en los niños. En este estudio se investigó la relación entre ver televisión, escuchar música con auriculares, el uso del teléfono inteligente o tableta y computadora y el dolor de cabeza primario en niños. Nuestro objetivo fue determinar la asociación entre la cefalea primaria en niños y el uso excesivo de dispositivos de visualización digital y auriculares, y el efecto de la disminución del uso de dispositivos de visualización digital y auriculares sobre la cefalea primaria. MÉTODOS: El estudio incluyó a 69 niños con cefaleas primarias y 64 niños sin cefaleas como grupo control. Se evaluaron las características demográficas y de dolor de cabeza y uso de dispositivos de visualización digital y auriculares de los participantes. Se aconsejó a los pacientes y familiares que disminuyeran el uso del dispositivo de pantalla digital y los auriculares y se volvió a evaluar la carga de dolor de cabeza después de 1 mes. RESULTADOS: La frecuencia de la cefalea fue más frecuente en los pacientes que veían televisión y utilizaban un teléfono inteligente o una tableta más de 6 horas al día. El uso de más de 3 horas al día fue más común en el grupo de estudio que en el grupo control. La frecuencia del dolor de cabeza disminuyó en todos los pacientes 1 mes después de la restricción del dispositivo de imagen digital y los auriculares. CONCLUSIONES: Ver la televisión y el uso de un teléfono inteligente o tableta se asocian estrechamente con el dolor de cabeza primario en la infancia.

The relationship between the use of digital display devices and headphones and primary headaches in children / La relación entre el uso de dispositivos de visualización digital y auriculares y el dolor de cabeza primario en niños

Abstract Background: Headache represents the most common neurologic symptom in children. In this study, we investigated the relationship between watching television, listening to music with headphones, smartphone, tablet, and computer use, and primary headaches in children. We aimed to determine whether primary headache in children is associated with excessive use of digital display devices and headphones and whether reducing the use of digital display devices and headphones affects primary headache. Methods: The study included 69 children with primary headaches and 64 with no headaches as a control group. All subjects were evaluated for demographic and headache characteristics and the use of digital display devices and headphones. Our recommendation for patients and families was to decrease the use of digital display devices and headphones, and the headache burden was re-evaluated after one month. Results: Headache frequency was more common in patients who watched television and used smartphones or tablets for more than 6 hours per day. Using a smartphone or tablet for more than 3 hours daily was more common in the study group than the control group. Headache frequency decreased in all patients one month after the digital imaging device and headphones were restricted. Conclusions: Watching television and using a smartphone or tablet strongly associates with primary headaches during childhood.

Resumen Introducción: La cefalea representa el síntoma neurológico más común en los niños. En este estudio se investigó la relación entre ver televisión, escuchar música con auriculares, el uso del teléfono inteligente o tableta y computadora y el dolor de cabeza primario en niños. Nuestro objetivo fue determinar la asociación entre la cefalea primaria en niños y el uso excesivo de dispositivos de visualización digital y auriculares, y el efecto de la disminución del uso de dispositivos de visualización digital y auriculares sobre la cefalea primaria. Métodos: El estudio incluyó a 69 niños con cefaleas primarias y 64 niños sin cefaleas como grupo control. Se evaluaron las características demográficas y de dolor de cabeza y uso de dispositivos de visualización digital y auriculares de los participantes. Se aconsejó a los pacientes y familiares que disminuyeran el uso del dispositivo de pantalla digital y los auriculares y se volvió a evaluar la carga de dolor de cabeza después de 1 mes. Resultados: La frecuencia de la cefalea fue más frecuente en los pacientes que veían televisión y utilizaban un teléfono inteligente o una tableta más de 6 horas al día. El uso de más de 3 horas al día fue más común en el grupo de estudio que en el grupo control. La frecuencia del dolor de cabeza disminuyó en todos los pacientes 1 mes después de la restricción del dispositivo de imagen digital y los auriculares. Conclusiones: Ver la televisión y el uso de un teléfono inteligente o tableta se asocian estrechamente con el dolor de cabeza primario en la infancia.

Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective.

In this article, parents' supernatural beliefs on causes of birth defects were reviewed and discussed from Islamic perspective to draw attention to the importance of supernatural powers in Islamic teachings. Birth defects have been known since ancient ages and many people with different birth defects, who lived in antiquity, have been described. Although reasons for birth defects given in early medieval, 13th, 16th, and 21st centuries medical texts showed differences, numerous people in different cultures of the world have believed the effects of supernatural powers can cause birth defects since early medieval ages. Sixteenth century medical authors associated biomedical explanations with social upheavals and theology in order to understand the individual sins and the signs of the times presented by Allah through malformed human births. However, there is no religious phrase mentioning about causes of birth defects in medical textbooks of the 21st century. Based on the Islamic teachings, we would like to emphasize that supernatural beliefs including "Allah's will and qadar," "a test from Allah," "a punishment from Allah," "nazar (evil eye)," "sihr (magic or sorcery)," and "jinn possession" believed by parents as a cause of birth defects are right, real, and true, and not superstition or misconception. The Quran says "everything is determined by Almighty Allah" and "no kind of calamity can occur, except by the leave of Allah." So, we strongly believe that religious teachings must be integrated into modern medicine. The need for religion is not only for Muslims but also for all people a need of pre-eternity and posteternity. The unfortunate humanity today suffers in great pain from the constant sorrow and disasters of being deprived of the religion blessing.

The effects of parental divorce on children.

Family is very important for development of children. Divorce is a life event with a high level of stress for the entire family. Children are dependent on parents and disadvantaged during divorce because it is out of their control.1 Herein, we present our observations about children whose parents separated or divorced to increase the awareness of physicians about the negative effects of divorce. Individuals affected by parental divorce have a higher risk of developing a variety of mental health conditions including emotional and behavioral disorders, poor school performance, depression, anxiety, suicidal ideation, suicide attempt, distress, smoking and substance abuse.2,3 Externalizing problems in girls precede and predict later parental divorce. Post-divorce problems in children vary by raters, and may depend on the time lapse since divorce.4 Lansford et al 5 noted that early parental divorce/separation is more negatively related to trajectories of internalizing and externalizing problems than is later divorce/separation, whereas later divorce/separation is more negatively related to grades. In another study, divorce in parents was significantly associated with higher alcohol use disorder, higher cigarette dependence and higher water pipe dependence in adolescents.6 In the study of Tullius et al 7 the levels of both internalizing and externalizing problems were significantly higher in the period after parental divorce, but not in the period before divorce, with a persistent and increasing effect over the follow-up periods compared to adolescents not experiencing divorce. Zeratsion et al 8 reported that parental divorce in late adolescence does not lead to mental health problems, as has been shown before, while such problems may prevail among young adolescents. This does not mean that parental divorce creates less problems in late adolescence than before but these youths might have developed adjustment abilities against health effects as divorce have turned to be more common. In our clinical practice, we have also observed various emotional, behavioral, psychosomatic, and conversion disorders in children, particularly in preadolescents and adolescents, before and/or after a separation or divorce of parents. Children often lack information and skills to overcome the challenges that the divorce carries. Conflicting relationships between parents make up the biggest obstacle that makes it difficult for a child to successfully deal with changes in the family. Even though parents deal with heavy feelings, it is desirable to put them the child and his interests in the first place. In order to stabilize the family system, 2 to 4 years are usually needed.1 Physicians can assist families by providing support and advice, and advocating for children within systems that serve separating families. Physicians can provide information so that individuals who work with such children recognize, and are sensitive to, their individual needs, and provide supportive and nurturing experiences for the children in schools, camps and sporting activities. These efforts will promote better mental health outcomes for children affected by their parents' separation.9 The most important way to minimize emotional harm to children involved in a separation and divorce is to ensure that children maintain a close and secure relationship with both parents, unless there is spousal or child abuse or neglect, or parental substance abuse.9 Age-appropriate explanation and counseling for the child and advice and guidance for the parents, as well as recommendation of reading material, may help reduce the potential negative effects of divorce. Often, referral to professionals with expertise in the social, emotional, and legal aspects of the separation and its aftermath may be helpful for these families.10 An example of paragraph from a reading material for parents is as follows: The most comprehensive centre of man's worldly life, and its mainspring, and a paradise, refuge, and fortress of worldly happiness, is the life of the family. Everyone's home is a small world for him/her. And the life and happiness of his/her home and family are possible through genuine, earnest, and loyal respect and true, tender, and self-sacrificing compassion. This true respect and genuine kindness may be achieved with the idea of the members of the family having an everlasting companionship and friendship and togetherness, and their parental, filial, brotherly, and friendly relations continuing for all eternity in a limitless life, and their believing this.11 In conclusion, we would like emphasize that various psychosocial, psychosomatic and conversion disorders may be seen in children affected by parental divorce. Physicians interested in child health can notice parents' separation problems during evaluation of children. Referral to professionals with expertise in separation may be helpful for conflicting parents.

Risk and Prognostic Factors in Perinatal Hemorrhagic Stroke.

BACKGROUND: Perinatal stroke encompasses a heterogeneous group of focal neurological injuries early in brain development. In this study, we aimed to compare risk and prognostic factors in preterm and term infants with perinatal hemorrhagic stroke (PHS). PATIENTS AND METHODS: The study includes 66 infants with PHS. The infants were evaluated for demographic characteristics, fetal and maternal risk factors, perinatal events, clinical and neuroimaging findings, complications, and sequales. RESULTS: Of 66 infants with PHS, 44 (66.70%) were preterm and 22 (33.30%) were term infants. Primiparity, mucosal bleeding, and multiple lobes involvement were more common in term infants than preterm infants (P < 0.05); however, respiratory insufficiency, neonatal sepsis, perinatal asphyxia, respiratory distress syndrome, use of invasive mechanical ventilation, use of noninvasive mechanical ventilation, and prolonged hospitalization were more common in preterm infants than term infants (P < 0.05). Eight (12.12%) infants died during infancy period. Small for gestational age and mucosal bleeding were more common in infants who are dead than those alive (P < 0.05). Forty-two (63.63%) infants were followed. Cerebral palsy and/or epilepsy and/or hydrocephalus were diagnosed in 36 (85.72%) infants during follow-up. CONCLUSION: Our findings showed that PHS was much more common in preterm infants. Mucosal bleeding and multiple lobes involvement were more common in term infants. PHS has high morbidity and mortality rates. Small for gestational age and mucosal bleeding were more common in infants who are dead.

Electronic Screen Exposure and Headache in Children.

Headache represents the most common neurologic disorder in the general population including children and is increasingly being recognized as a major source of morbidity in youth related to missed school days and activities. Electronic screens are becoming increasingly important in the lives of preteens and teens. In this review, we discussed effects of electronic screens on primary headache in childhood to emphasize the importance of electronic screen exposure in children with headache. Using digital and social media can bring some benefits and risks for mental and physical health. Time spent on screen-based activities contributes to the chance of reporting general physical complaints, in particular, headache and backache during early adolescence. We suggest that all children with primary headache should be evaluated for abuse of electronic screens in neurology practice. We also think that restriction of electronic screen should be advised in children with migraine and tension type headache before initiation of pharmacotherapy. As online classes are a reality, use of electronic screen may be allowed for school age children up to 2 h/day with taking time away from digital media every 20 min for 20 sec. In conclusion, we would like to emphasize that limiting the time spent on the screen is important for the reduction of headache symptoms of children and adolescents.