Neurodevelopmental Disorders and other childhood disorders.pptx

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1. Dr.Sonia Kapur Clinical Psychologist and Assistant Professor Guru Nanak Dev University Neurodevelopmental Disorders and other Childhood Disorders

2. Common childhood and neurodevelopmental disorders Autism Spectrum Disorder (ASD) Attention Deficit/Hyperactivity Disorder (ADHD) Specific Learning Disabilities (SLD) Sleepwalking Disruptive ; Impulse-control, and Conduct Disorders Intellectual Disabilities Motor Disorder - Tics and Tourette Communication Disorders Elimination Disorders (Enuresis/Encopresis) Motor Disorders – Developmental co-ordination disorder, Stereotypic movement disorder. Global Development Delay (GDD) Fetal Alcohol Spectrum Disorder Traumatic Brain Injury Genetic Disorders- Down Syndrome, Fragile X Syndrome Childhood Depression

3. Autism Spectrum Disorder

4. Attention Deficit/ Hyperactive Disorder

5. Global Development Delay (GDD) This diagnosis is reserved for individuals under the age of 5 years when the clinical severity level cannot be reliably assessed during childhood. This category is diagnosed when an individual fails to meet expected developmental milestones in several areas of intellectual functioning, and applies to individuals who are unable to undergo systematic assessments of intellectual functioning, including children who are too young to participate in standardized testing. This category requires reassessment after a period of time. Ref: DSM-5 (full text manual)

6. Specific Learning Disorders (SLD)

7. Sleepwalking

8. Disruptive ; Impulse – Control, and Conduct Disorders

9. Clinical picture of Oppositional Defiant Disorder (ODD) - An important precursor of the antisocial behaviour seen in children who develop conduct disorder is often what is now called oppositional defiant disorder (ODD) and categorized under Disruptive, Impulse-Control, and Conduct Disorders in DSM-5. The criteria for ODD were changed in DSM-5 somewhat from the DSM-IV disorder. The ODD disorder is now grouped into three subtypes: angry/irritable mood, argumentative/defiant behaviour and vindictiveness. Moreover, a severity rating has been included as an indicator of severity. The essential feature is a recurrent pattern of negativistic, defiant, disobedient, and hostile behaviour toward authority figures that persists for at least 6 months. This disorder usually begins by the age of 8, whereas full-blown conduct disorders typically begin from middle childhood through adolescence. Prevalence: The lifetime prevalence of ODD as reported in a national sample of adult respondents was relatively high: 11.2 percent for boys and 9.2 percent for girls (Nock et al., 2007). Prospective studies have found a developmental sequence from oppositional defiant disorder to conduct disorder, with common risk factors for both conditions (Hinshaw, 1994). That is, virtually all cases of conduct disorder are preceded developmentally by oppositional defiant disorder, but not all children with oppositional defiant disorder go on to develop conduct disorder within a 3-month period.

10. Clinical picture of Conduct Disorder - The essential symptomatic behavior in conduct disorder and ODD involves a persistent, repetitive violation of rules and a disregard for the rights of others and is essentially the same as in DSM-IV. Children with conduct disorder show a deficit in social behavior. In general, they manifest such characteristics as overt or covert hostility, disobedience, physical and verbal aggressiveness, quarrelsomeness, vengefulness, and destructiveness. Lying, solitary stealing, and temper tantrums are common. Such children tend to be sexually uninhibited and inclined toward sexual aggressiveness. Some may engage in cruelty to animals, bullying, fire setting, vandalism, robbery, and even homicidal acts. Children and adolescents with conduct disorder are also frequently comorbid for other disorders such as substance-abuse disorder or depressive symptoms. Zoccolillo, Meyers, and Assiter (1997) found that conduct disorder is a risk factor for unwed pregnancy and substance abuse in teenage girls. Goldstein and colleagues (2006) report that early onset conduct disorder is highly associated with later development of antisocial personality disorder (see Chapter 8); Fergusson, Horwood, and Ridder (2007) and Yang and colleagues (2007) found that conduct disorder in childhood and adolescence is generally related to later substance use, abuse, and dependence

11. Causal factors in oppositional Defiant Disorder and Conduct Disorder A Self- perpetuating cycle Age of onset and links to Anti-social personality Disorder Psychosocial Factors Treatments and outcomes The Cohesive Family Model Behavioural and Biological based treatments

12. Intellectual Disorders

13. Motor disorder - Tics and Tourette A tic is a persistent, intermittent muscle twitch or spasm, usually limited to a localized muscle group. The term is used broadly to include blinking the eye, twitching the mouth, licking the lips, shrugging the shoulders, twisting the neck, clearing the throat, blowing the nose, and grimacing, among other actions. Tic disorders are classified under motor disorders in DSM-5. Tics occur most frequently between the ages of 2 and 14 (Evans et al., 1996). In some instances, as in clearing the throat, an individual may be aware of the tic when it occurs, but usually he or she performs the act habitually and does not notice it. In fact, many individuals do not even realize they have a tic unless someone brings it to their attention. A recent study on the prevalence of tic disorder in children and adolescents conducted by Stefanoff and colleagues (2008) reported that tic disorders are common among schoolchildren. They found that the lifetime prevalence of tic disorders (TD) is 2.6 percent for transient tic disorder (TTD), 3.7 percent for chronic tic disorder (CTD), and 0.6 percent for Tourette disorder (TD).

14. Tourette’s disorder, classified as a motor disorder in DSM-5, is an extreme tic disorder involving multiple motor and vocal patterns. This disorder typically involves uncontrollable head movements with accompanying sounds such as grunts, clicks, yelps, sniffs, or words. Some, possibly most, tics are preceded by an urge or sensation that seems to be relieved by execution of the tic. Tics are thus often difficult to differentiate from compulsions, and they are sometimes referred to as “compulsive tics” About one-third of individuals with Tourette’s disorder manifest coprolalia, which is a complex vocal tic that involves the uttering of obscenities. Some people with Tourette’s disorder also experience explosive outbursts ( Budman et al., 2000). The average age of onset for Tourette’s disorder is 7, and most cases have an onset before age 14. The disorder frequently persists into adulthood, and it is about three times more frequent among males than among females.

15. Although the exact cause of Tourette’s disorder is undetermined, evidence suggests an organic basis (Margolis et al., 2006). There are many types of tics, and many of them appear to be associated with the presence of other psychological disorders (Cardona et al., 1997), particularly obsessive-compulsive disorder (OCD). Most tics, however, do not have an organic basis but stem from psychological causes such as self-consciousness or tension in social situations, and they are usually associated with severe behavioral problems (Rosenberg et al., 1995). Among medications, neuroleptics are the most predictably effective tic-suppressing drugs ( Kurlan , 1997). Clonazepam, clonidine, and tiapride have all shown effectiveness in reducing motor tics; however, tiapride has shown the greatest decrease in the intensity and frequency of tics ( Drtikova et al., 1996).

16. Most people suffering from tic disorders do not receive treatment for their symptoms (Cook & Blacher , 2007); however, behavioral intervention techniques have been used successfully in treating tics (Woods & Miltenberger, 2001). One successful program, habit reversal treatment or HRT, involves several sequential elements, beginning with awareness training, relaxation training, and the development of incompatible responses, and then progressing to cognitive therapy and modification of the individual’s overall style of action (Chang, Piacentina , & Walkup, 2007). Finally, perfectionist expectations about self image (which are often found in children and adolescents with tics) are addressed through cognitive restructuring. Because children with Tourette’s disorder can have substantial family adjustment (Wilkinson et al., 2001) and school adjustment problems (Nolan & Gadow , 1997), interventions should be designed to aid their adjustment and to modify the reactions of peers to them. Ref: DSM-5 (full text manual)

17. Communication Disorders : Language Disorder Language disorder usually affects vocabulary and grammar, and these effects then limit the capacity for discourse. The child's first words and phrases are likely to be delayed in onset; vocabulary size is smaller and less varied than expected; and sentences are shorter and less complex with grammatical errors, especially in past tense. Deficits in comprehension of language are frequently underestimated, as children may be good at using context to infer meaning. There may be word-finding problems, impoverished verbal definitions, or poor understanding of synonyms, multiple meanings, or word play appropriate for age and culture. Problems with remembering new words and sentences are manifested by difficulties following instructions of increasing length, difficulties rehearsing strings of verbal information (e.g., remembering a phone number or a shopping list), and difficulties remembering novel sound sequences, a skill that may be important for learning new words. Difficulties with discourse are shown by a reduced ability to provide adequate information about the key events and to narrate a coherent story

18. Ref: DSM-5 (full text manual)

19. Communication Disorders :Speech Sound Disorder Speech sound production describes the clear articulation of the phonemes (i.e., individual sounds) that in combination make up spoken words. Speech sound production requires both the phonological knowledge of speech sounds and the ability to coordinate the movements of the articulators (i.e., the jaw, tongue, and lips,) with breathing and vocalizing for speech. Children with speech production difficulties may experience difficulty with phonological knowledge of speech sounds or the ability to coordinate movements for speech in varying degrees. Speech sound disorder is thus heterogeneous in its underlying mechanisms and includes phonological disorder and articulation disorder. A speech sound disorder is diagnosed when speech sound production is not what would be expected based on the child's age and developmental stage and when the deficits are not the result of a physical, structural, neurological, or hearing impairment. Among typically developing children at age 4 years, overall speech should be intelligible, whereas at age 2 years, only 50% may be understandable.

20. Differential diagnosis : Normal variations in language, Hearing or other sensory impairments, structural deficits (e.g. Cleft palate), selective mutism. Ref: DSM-5 (full text manual)

21. Communication Disorders :Childhood On-set Fluency Disorder (Stuttering) The essential feature of childhood-onset fluency disorder (stuttering) is a disturbance in the normal fluency and time patterning of speech that is inappropriate for the individual's age. This disturbance is characterized by frequent repetitions or prolongations of sounds or syllables and by other types of speech dysfluencies, including broken words (e.g., pauses within a word), audible or silent blocking (i.e., filled or unfilled pauses in speech), circumlocutions (i.e., word substitutions to avoid problematic words), words produced with an excess of physical tension, and monosyllabic whole-word repetitions (e.g., 'T-I-I-I see him"). The disturbance in fluency interferes with academic or occupational achievement or with social communication. The extent of the disturbance varies from situation to situation and often is more severe when there is special pressure to communicate (e.g., giving a report at school, interviewing for a job). Dysfluency is often absent during oral reading, singing, or talking to inanimate objects or to pets Childhood-onset fluency disorder, or developmental stuttering, occurs by age 6 for 80%- 90% of affected individuals, with age at onset ranging from 2 to 7 years. The onset can be insidious or more sudden. Typically, dysfluencies start gradually, with repetition of initial consonants, first words of a phrase, or long words.

22. Differential diagnosis : Sensory deficits, Normal speech dysfluencies, medication side effect, Adult onset dysfluencies, Tourette’s disorder. Ref: DSM-5 (full text manual)

23. Communication Disorders :Social (Pragmatic) Communication Disorder Social (pragmatic) communication disorder is characterized by a primary difficulty with pragmatics, or the social use of language and communication, as manifested by deficits in understanding and following social rules of verbal and nonverbal communication in naturalistic contexts, changing language according to the needs of the listener or situation, and following rules for conversations and storytelling. The deficits in social communication result in functional limitations in effective communication, social participation, development of social relationships, academic achievement, or occupational performance. The deficits are not better explained by low abilities in the domains of structural language or cognitive ability. Because social (pragmatic) communication depends on adequate developmental progress in speech and language, diagnosis of social (pragmatic) communication disorder is rare among children younger than 4 years. By age 4 or 5 years, most children should possess adequate speech and language abilities to permit identification of specific deficits in social communication. Milder forms of the disorder may not become apparent until early adolescence, when language and social interactions become more complex Ref: DSM-5 (full text manual)

24. Differential diagnosis : ASD, ADHD, Social Anxiety Disorder (social phobia), Intellectual Disability.

25. Elimination Disorders: Enuresis

26. The prevalence of enuresis is 5%-10% among 5-year-olds, 3%-5% among 10-year-olds, and around 1% among individuals 15 years or older

27. Enuresis may result from a variety of organic conditions, such as disturbed cerebral control of the bladder ( Goin , 1998), neurological dysfunction, other medical factors such as medication side effects (Took & Buck, 1996), or having a small functional bladder capacity and a weak urethral sphincter (Dahl, 1992). One group of researchers reported that 11 percent of their enuretic patients had disorders of the urinary tract (Watanabe et al., 1994). However, most investigators have pointed to a number of other possible causal factors : (1) faulty learning, resulting in the failure to acquire inhibition of reflexive bladder emptying; (2) personal immaturity, associated with or stemming from emotional problems; (3) disturbed family interactions, particularly those that lead to sustained anxiety, hostility, or both; and (4) stressful events ( Haug Schnabel, 1992). For example, a child may regress to bed-wetting when a new baby enters the family and becomes the center of attention.

28. Treatment Medical treatment of enuresis typically centers on using medications such as the antidepressant drug imipramine. The mechanism underlying the action of the drug is unclear, but it may simply lessen the deepest stages of sleep to light sleep, enabling the child to recognize bodily needs more effectively. Conditioning procedures have proved to be highly effective treatment for enuresis ( Friman et al., 2008). Mowrer and Mowrer (1938), in their classic research that is still relevant today, introduced a procedure in which a child sleeps on a pad that is wired to a battery-operated bell. At the first few drops of urine, the bell is set off, thus awakening the child. Through conditioning, the child comes to associate bladder tension with awakening. Some evidence suggests that a biobehavioral approach—that is, using the urine alarm along with desmopressin—is most effective (Mellon & McGrath, 2000).

29. Elimination Disorders : Encopresis It is estimated that approximately 1% of 5-year-olds have encopresis, and the disorder is more common in males than in females.

30. Many encopretic children suffer from constipation, so an important element in the diagnosis is a physical examination to determine whether physiological factors are contributing to the disorder. The treatment of encopresis usually involves both medical and psychological aspects. Several studies of the use of conditioning procedures with encopretic children have reported moderate treatment success; that is, no additional incidents occurred within 6 months following treatment ( Friman et al., 2008). However, research has shown that a minority of children (11 to 20 percent) do not respond to learning-based treatment approaches (Keeley et al., 2009).

31. Motor Disorders : Developmental co-ordination Disorder

32. Developmental coordination disorder does not have discrete subtypes; however, individuals may be impaired predominantly in gross motor skills or in fine motor skills, including handwriting skills. Other terms used to describe developmental coordination disorder include childhood dyspraxia, specific developmental disorder of motor function, and clumsy child syndrome. The prevalence of developmental coordination disorder in children ages 5-11 years is 5%- 6% (in children age 7 years, 1.8% are diagnosed with severe developmental coordination disorder and 3% with probable developmental coordination disorder). Males are more often affected than females, with a male : female ratio between 2:1 and 7:1.

33. Motor Disorders : Stereotypic Movement Disorder

34. Prevalence Simple stereotypic movements (e.g., rocking) are common in young typically developing children. Complex stereotypic movements are much less common (occurring in approximately 3%-4%). Between 4% and 16°/« of individuals with intellectual disability (intellectual developmental disorder) engage in stereotypy and self-injury. The risk is greater in individuals with severe intellectual disability. Among individuals with intellectual disability living in residential facilities, 10%-15% may have stereotypic movement disorder with self-injury

35. Fetal Alcohol Spectrum Disorder (FASD) A baby born to a mother who drinks alcohol during pregnancy can have many problems. This is called fetal alcohol spectrum disorder (FASD). FASDs include: Fetal alcohol syndrome (FAS).  This is the most severe effect of drinking during pregnancy. It may include fetal death. Infants born with FAS have abnormalities of the face. They also have growth and central nervous system (CNS) problems. This includes learning and mental disabilities. Partial fetal alcohol syndrome ( pFAS ). This refers to children who have only 2 of the physical aspects of fetal alcohol syndrome. They have slow growth and CNS problems.  Alcohol-related neurodevelopmental disorder (ARND).  Children with ARND may have learning and behavior problems. These may include problems with math, memory or attention, and impulse control or judgment. They may also do poorly in school.  Alcohol-related birth defects (ARBD).  This can include defects in the heart, kidneys, bones, or hearing. FASDs happen when a mother drinks alcohol during pregnancy. Like other drugs, alcohol can pass from the mother's blood through the placenta to the baby. Alcohol is broken down more slowly in the baby than in an adult. Alcohol levels can stay high in the baby's body. This affects development. No amount of alcohol during pregnancy is safe. There is no safe time to drink in pregnancy. Even light or moderate drinking can affect the growing baby.  Ref: https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/f/fetal-alcohol-spectrum-disorder-fasd.html

36. Babies or children with FASDs may have: Slow fetal growth and low birth weight Alcohol withdrawal symptoms in newborns (such as high-pitched cry, jitteriness, and seizures) Sleep and sucking problems in infancy Abnormalities of the face (such as small eyes and thin mouth) Shorter height than other children of the same age Poor physical coordination Hyperactivity Learning or thinking problems or low IQ Speech or language delays Problems with daily living, reasoning, and judgment. Complications of FASDs can range from mild learning disabilities to more severe behavior and mental problems. Physical disabilities or birth defects in children with FASD do not get better. Long-term problems may include: Mental health problems Poor social skills Unemployment Not finishing school

37. Key points about FASD: Fetal alcohol spectrum disorders are a group of physical, mental, and social problems in a child that are caused when a mother drinks alcohol during her pregnancy. The problems include abnormalities of the face. They also include problems with the central nervous system and poor growth. FASD can also cause mental health, behavior, and development problems.  There is no cure for FASD. But getting help early can help improve a child's behavior. Medicine may help a child's attention difficulties or hyperactive behaviors. Families may also get help by learning parenting skills and having access to respite care. How is FASD treated? Newborns may need special care in the newborn intensive care unit (NICU). A newborn may get medicine to help with alcohol withdrawal.  The physical problems seen in FASDs last throughout life. But programs can help improve a child's development. Such programs may focus on improving a child's behavior with early education and tutoring. Programs also help parents with parenting skills. Medicine may help a child's attention problems or hyperactive behaviors. Over time, your child may get help from special education programs and social services.

38. Traumatic Brain Injury Traumatic brain injury (TBI) is the leading cause of death and disability in children. TBI in children result in a range of traumatic injuries to the scalp, skull, and brain that are comparable to those in adults but differ in both pathophysiology and management. The differences are attributable to age-related structural change, mechanism of injuries based on physical ability of the child, and the difficulty in neurological evaluation of pediatric populations. The scalp is highly vascularized and a potential cause of lethal blood loss. Even a small loss of blood volume can lead to hemorrhagic shock in a newborn, infant, and toddler, which may occur without apparent external bleeding. Therefore, children are considered to exhibit a specific pathological response to brain injury and accompanying neurological symptoms. Advances in diagnostic imaging have improved the quality of care by assisting healthcare providers to evaluate and diagnose children with TBI. In addition, magnetic resonance imaging (MRI) has facilitated accurate diagnosis, appropriate selection of treatment, prevention of further complications such as higher brain dysfunction as well as post-traumatic seizures. Ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341344/#:~:text=Introduction-,Traumatic%20brain%20injury%20(TBI)%20is%20the%20leading%20cause%20of%20death,in%20both%20pathophysiology%20and%20management.

39. Childhood Depression Childhood depression includes behaviours such as withdrawal, crying, avoidance of eye contact, physical complaints, poor appetite, and even aggressive behaviour and in some cases suicide (Pfeffer, 1996a, 1996b). One epidemiological study (Cohen et al., 1998) reported an association between somatic illness and childhood depressive illness, suggesting that there may be some common etiologic factors. In the past, childhood depression has been classified according to essentially the same DSM diagnostic criteria used for adults. However, research on the neurobiological correlates and treatment responses of children, adolescents, and adults has shown clear differences in hormonal levels and in the response to treatment (Kaufman et al., 2001). Gaffrey and colleagues (2011) recently reported an fMRI study indicating that depressed pre-schoolers exhibit a significant positive relationship between depression severity and right amygdala activity when viewing facial expressions of negative affect. Depression in children and adolescents occurs with high frequency. The overall prevalence rates are as follows: under age 13, 2.8 percent; ages 13 to 18, 5.6 percent (girls, 5.9 percent; boys, 4.6 percent). These rates have been generally consistent over the past 30 years (Costello et al., 2006). Lewinsohn and colleagues (1993) report that 7.1 percent of the adolescents surveyed reported having attempted suicide in the past; in another epidemiological study, Lewinsohn, Rohde, and Seeley (1994) point out that 1.7 percent of adolescents between 14 and 18 had made a suicide attempt.

40. Treatment The predominant approach for treating depression in children and adolescents over the past few years has been the combined use of medication and psychotherapy ( Skaer et al., 2000). Controlled studies of psychological treatment with depressed adolescents have shown significantly reduced symptoms with cognitive- behavioral therapy (Horowitz et al., 2007; Mash & Barkley, 2006). Short-term residential treatment can also be effective with depressed children ( Leichtman , 2006). A recent longitudinal follow-up study of adolescents who had been treated for depression showed that effective treatment can reduce the recurrence of depression ( Beevers et al., 2007).

41. Genetic Disorders Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material.  Genetic disorders can be: Chromosomal:  This type affects the structures that hold your genes/DNA within each cell (chromosomes). With these conditions, people are missing or have duplicated chromosome material. Complex (multifactorial):  These disorders stem from a combination of gene mutations and other factors. They include chemical exposure, diet, certain medications and tobacco or alcohol use. Single-gene (monogenic):  This group of conditions occurs from a single gene mutation. Causes of Genetic Disorder: When a mutation occurs, it affects the genes’ protein-making instructions. There could be missing proteins. Or the ones you have do not function properly. Environmental factors (also called mutagens) that could lead to a genetic mutation include: Chemical exposure. Radiation exposure. Smoking. UV exposure from the sun.

42. Down Syndrome People with Down syndrome are born with an extra chromosome, which changes the way their brain and body develop. Down syndrome is a genetic disorder. Most babies are born with 23 pairs of chromosomes within each cell for a total of 46. A chromosome is a structure that contains genes, which are made up of your DNA. Genes determine how you form and develop growing in the womb and after birth. The majority of babies with Down syndrome are born with an extra copy of chromosome 21, with three copies of the chromosome instead of the usual two. As a result people born with Down syndrome face some physical and mental challenges throughout life. They typically have distinctive body and facial features that set them apart. They are more likely to develop slowly, and are more at risk for some medical conditions. Risk factor : T he risk of giving birth to a child with Down syndrome increases as women grow older. Women aged 35 and older are more likely to have their pregnancy affected by the syndrome. But because younger women have higher fertility rates, most babies with Down syndrome are born to women under 35. Ref: https://my.clevelandclinic.org/health/diseases/17818-down-syndrome

43. Down syndrome causes physical, cognitive (thinking) and behavioral symptoms. Physical signs of Down syndrome can include: Short, stocky physical size, with a short neck. Poor muscle tone. Flattened facial features, especially the bridge of the nose. Small ears. Almond-shaped eyes that slant upward. Small hands and feet. Single deep crease across the center of the palm of the hand. Common learning and behavioral symptoms of Down syndrome include: Delays in speech and language development. Attention problems. Sleep difficulties. Stubbornness and tantrums. Delays in cognition. Delayed toilet training. Not all people with Down syndrome have all these symptoms. Symptoms and their severity are different from person to person.

44. People with Down syndrome often have associated medical conditions that are either present at birth or develop over time.  Common conditions of Down syndrome can include: Heart problems, frequently present at birth. Thyroid abnormalities. Hearing and vision problems. Low fertility rate in males with the syndrome. Around 50% of women with Down syndrome are able to bear children, but the risk of the child having the condition is between 35%-50%. Sleep apnea . Gastrointestinal problems, like constipation, gastroesophageal reflux (when fluid from the stomach re-enters the esophagus) and  celiac disease  (intolerance for wheat protein). Autism , with challenges with social skills, communication and repetitive behaviors. Alzheimer’s disease , which causes memory and thinking problems in older age.

45. Treatment for Down syndrome varies. It typically starts in early childhood. The purpose is for you and your child with Down syndrome to learn to cope with the condition, as well as treat what physical and cognitive (thinking) challenges arise. The care team may include: Primary care providers to monitor growth, development, medical concerns and provide vaccinations. Medical specialists depending on the needs of the person (for example, cardiologist, endocrinologist, geneticist, hearing and eye specialists). Speech therapists to help them communicate. Physical therapists to help strengthen their muscles and improve motor skills. Occupational therapists to help refine their motor skills and make daily tasks easier. Behavioral therapists to help manage emotional challenges that can come with Down syndrome.

46. Fragile X Syndrome Fragile X syndrome (FXS), also known as Martin-Bell syndrome, is an inherited condition that causes  developmental delays , intellectual disabilities, learning and behavioral issues, physical abnormalities, anxiety,  attention-deficit/hyperactivity disorder  and/or  autism spectrum disorder , among other problems. It’s the most common form of inherited intellectual and developmental disability (IDD). FXS is named fragile X syndrome because, when looked at through a microscope, part of the X chromosome looks “broken” or “fragile.” FXS is one of three syndromes in the fragile X family. The other two syndromes are: Fragile X-associated tremor/ataxia syndrome (FXTAS) . Symptoms include balance problems, shaky hands, unstable mood, memory loss, cognitive problems and numbness in the hands and feet. Fragile X-associated primary ovarian insufficiency (FXPOI).  Symptoms include reduced fertility, infertility, missing or unpredictable menstrual periods and premature menopause. Fragile x syndrome can sometimes cause autism. If your child has autism, they have a 2% to 6% chance of also having fragile X syndrome. fragile X syndrome is an inherited genetic condition.

47. Fragile X syndrome affects your child’s intelligence, mental health, physical features and behavior. Common symptoms in each category include: Intelligence issues: Learning disabilities. Low intelligence quotient (IQ). Their IQ scores decrease with age. Delayed early developmental milestones. Milestones are social/emotional, language/communication, cognitive (thinking, learning, problem-solving) as well as movement/physical development (see below). Delayed development of nonverbal communication such as using gestures, body language and facial expressions. Problems with math. Language processing. You might notice that your child struggles with speech and language around age two. Mental health problems: Anxiety. Depression. Obsessive compulsive behaviors. Physical features: A long, narrow face. A large forehead. A large jaw. Soft skin. Large ears and crossed/lazy eyes. Very flexible or double-jointed fingers. Flat feet. Enlarged testicles (in males, after puberty). A high-arched palate (the roof of the mouth). Low muscle tone. Behavior: Attention-deficit/hyperactivity disorder (ADHD). Social anxiety, shyness. Flapping or biting their hands. Poor eye contact. Sensory disorders – sensitivity to crowds, touch, sounds, foods and textures. Difficulty picking up “social cues.”

48. Sometimes people with fragile X syndrome have other health conditions.  Seizures  (epilepsy). Sleep problems. According to a different study, 4 in 10 people with FXS and autism spectrum disorder have sleeping problems. This is compared to 3 in 10 people who have only FXS. Aggressiveness or irritability. People with FXS in addition to autism spectrum disorder are more likely to be aggressive. Self-injury behaviors. Obesity. Fragile X syndrome can’t be cured, but the symptoms can be treated. Your child’s healthcare provider may prescribe a variety of medications, but therapy should also be included – therapy that works with coping and behavioral skills.

49. Thank you