#Total Speech Therapy-Cleft Lip and Palate Therapy

[totalspeechtherapy]

Cleft Lip and Palate Therapy

For more information about Cleft Lip and Palate Therapy please visit http://www.totalspeechtherapy.com/cleft-lip-and-palate-therapy/

[metamorphmagically]

About me

I’ve been meaning to make this post for a long time because I felt like I needed to explain something about me, and I’m surprised no one has ever commented or asked me about it. (not that it’s bad, I just expected people to comment/ask about it since that’s hows it been going my entire life) That being said, a huge thank you to @jenlizrose for pushing me over (my own anxiety filled) edge. 

I was born with what is called a cleft palate and a cleft lip. Let me get into more detail to what this exactly means. A cleft lip and cleft palate, also known as an orofacial cleft, is a group of conditions that include: 

a cleft lip (CL),

a cleft palate (CP),

and both together (CLP). 

A cleft lip (CL) contains an opening in the upper lip that may extend to the nose, which in my case, it does. The opening may be on one side, both sides, or in the middle.  A cleft palate (CP) is when the roof of the mouth contains an opening into the nose. I was born with both (CLP). These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. The treatment for children with CL, CP or CLP is surgery, speech therapy, and dental care. I’ve had all three options done. In total, I’ve had about seven surgeries (we’re not entirely sure, but I and my mother can remember at least seven)  in the course of twelve years. The condition was formerly known as a "hare-lip" because of its resemblance to a hare or rabbit, but that term is now generally considered to be offensive. I was severely bullied with my condition. I got called ugly, hare-lip, hare-lip kid, hare-lip boy, people told me my face and smile were ugly. The bullying lasted for so long and was so intense that I couldn’t smile or take pictures. I was afraid of smiling and the sight of a camera made me extremely nervous and anxious. Public speaking was not my thing, because I was scared people would only focus on my lip and nose, and not to what I was talking about. The bullying lasted for seven years. It started when I was around five or six years old, and it stopped in freshman year of high school when I was thirteen, although the teasing and name calling still occurs from time to time. I’ve grown immensely since the severe bullying stopped, and am now able to take pictures and record myself (as you guys can see on my blog, duh xd). But it will always remain something I’ll be self-conscious about. Sometimes I’m not bothered at all, but the next I’m able to literally tell myself I’m ugly and gross when looking at pictures of myself. Singing in the nearby presence of people, as well as the recording and posting of me singing, is also still an issue for me, but with time, it’ll get better.  If things are still a bit unclear, or if you just would like to look up more info, I’ll put some links down so you can check those out. Be warned though, some of the links will contain slightly disturbing/gore-y pictures of how a cleft palate exactly looks like.  Link 1 Link 2 Link 3 If you’ve got any questions about this and want to ask them personally. Please do not be afraid of asking them. I welcome questions and anything of that sort with open arms. If you’ve made it this far, thank you so much for caring xo. 

[sumithahemavathy]

Best Speech and Language Therapy in Hulimavu, Bangalore | CAPAAR

CAPAAR the Best Speech and Language Therapy in Bangalore assess speech, language, cognitive-communication, and oral/feeding/swallowing skills to identify types of communication problems and the best way to treat them.Our Therapists use a variety of strategies, including:

Speech-language difficulties due to hearing impairment

Speech Language difficulties due to Cerebral Palsy, Specific Language Impairment, Mental Retardation, Down Syndrome

Dysfluent Speech (Stammering)

Unclear Speech with Articulation & Phonological disorders

Speech problems associated with a repaired cleft of lip & Palate.

Speech Problems due to Oro-facial muscular weakness.

Voice Problems

Speech-Language Problems due to Autism Spectrum Disorders

Speech difficulties due to Apraxia, Dysarthria

Speech Language difficulties due to Stroke (in Adults)

Aphasia, Dementia, Traumatic Brain Injury

Learning, Reading & Writing disabilities in children

Parent Counseling & Parent Education

Is your Baby connecting with you…?

Early Warning Signs!!

CAPAAR the Best Speech and Language Therapy in Hulimavu says that every baby develops at a different pace, but most children acquire many of the same skills at the same ages. Here are a few early warning signs of a potential developmental delay or a delay in communication skill that might result in possible Speech Language & Cognitive Impairments.

By 4 months of age:

Doesn’t respond to loud noises.

Doesn’t notice hands

Doesn’t follow moving objects with eyes

Doesn’t babble

Doesn’t pay attention

Doesn’t attempt to grasp or hold objects.

By 8 months of age:

Refuses to cuddle

Shows no attention to parents or caregivers

Doesn’t seem to enjoy being around with people

Doesn’t turn head to locate sounds

Shows no interest in games

Absence of social smile

By 12 months of age:

Doesn’t crawl

Cannot stand with support

Doesn’t point to objects

Absence of single word utterance

Doesn’t learn to use gestures

Doesn’t search for objects that are hidden while he watches.

If so … Act Early. Your child might require assistance!!

Seek advice from our CAPAAR the Best Speech and Language Therapy in Hulimavu which has been certified as Speech Language Pathologist!

Early Identification facilitates early Interventions that enable successful Integration of your child into mainstream society.

Yes, you can overcome your STAMMERING!!

The smooth & easy flow of utterance in a speech is regarded as the Fluent Speech. This smooth & easy flow of speech depends upon the continuity of speech utterances, effort with which the utterances are affected, rate or the speech with which the speech is articulated & the rhythm of speech. Whenever these dimensions are broken it results in Disfluent Speech.

So when speech is frequently disrupted by Repetitions, Blocks & Prolongations, it takes the form of a fluency disorder termed as STUTTERING. Also commonly identified as Stammering.

Although the major forms of stuttering include “Developmental Stuttering”, “Neurogenic Stuttering” & “Psychogenic Stuttering” it is ‘Developmental Stuttering’ that is very commonly seen. Here, the speaker knows what to say, but is unable to say it without repetitions & blocks. Normally seen between 2 yrs & 6 yrs of age. This can also get carried on to teenage & adulthood if proper intervention is not initiated at the onset.

Danger Signs include:

Dysfluency for more than 10% of the total words spoken.

Sound/Syllable Repetitions.

Sound Prolongations.

Silent visible fixes between speech

Distressed feeling due to disruptions in speech.

Avoidance of speaking situations due to negative anticipations.

Visible signs of struggle during speech production.

Consult our certified Speech-language Pathologist/Therapist for more advice!! Treatment offered for children as well as Adults in separate individual sessions!!

For more information, visit: http://www.capaar4autism.com/

[dentistryzone1]

Cleft lip repair - Such a great outcome for this little patient! Cleft lip, cleft lip and palate, and isolated cleft palate, are collectively termed oral clefts (OCs). OCs are the most common congenital anomalies of the head and the neck with a total prevalence of 2.1 per 1000 live births. Both environmental and genetic factors have been implicated as causes. Ultimate treatment is surgical closure; however, timing of surgery, which may interfere with growth centers around the premaxilla, is somewhat controversial. For a cleft palate, a 2-stage procedure is often done. The cleft lip, nose, and soft palate are repaired during infancy (at age 3 to 6 mo). Then, the residual hard palate cleft is repaired at age 15 to 18 mo. Surgery can result in significant improvement, but if deformities are severe or treatment is inadequate, patients may be left with a nasal voice, compromised appearance, and a tendency to regurgitate. Dental and orthodontic treatment, speech therapy, and genetic counseling are recommended. Case credit: drderderian.com _______________________________ FOLLOW : 📷 Instagram/dentistryzone 👤 Facebook/dentistry.zone 💎 Twitter/dentistryzone1 👻 Dentistryzone ▶️ YouTube/DentistryZone ⚫️ Tumblr/dentistryzone1 _______________________________ Tag your friends 👇 #dentistryzone #dentistrylife #dentist #stomatology #oralsurgery #diş #maxilofacialsurgery #dentalstudent #dentaluniversity #tooth #odontologia #veneers #parodontologia #teeth #orthodontics #dentalhygienist #endodontics #gingivitis #parodontopatia #dentalscience #love #medicine #dentistry #tbt #photooftheday #comment #suisse #smile #usa #uk https://www.instagram.com/p/BsygbvIA1k-/?utm_source=ig_tumblr_share&igshid=p14puhxewcg5

[juniperpublishersophthalmology]

Hay-Wells Syndrome: Case Report- Juniper Publishers

Juniper Publishers- JOJ Ophthalmology

Abstract

Introduction: Hay-Wells Syndromeis a rare disease with an autosomal dominant transmission. It is a type of ectodermal dysplasia, leading to impaired development of hair, nails, teeth and glands, usually in association with cleft palate and/or lip and ankyloblepharon. This syndrome is present at birth and diagnosis is made based on child phenotypic features. This study aims to describe a case of this syndrome.

Case report: Authors describe a case of a newborn with no history of parental consanguinity or other similar cases in the family. At birth alopecia, ankyloblepharon, cleftpalate, micrognatia and absent nails were detected. Surgical correction of ankyloblepharon was done. Postoperative period had no complications and after 12 months of follow-up lid edges are completely free.

Discussion: As a genetic disease, treatment is symptom-oriented. Antibiotic ointments can be used in skin lesions. Surgery is reserved for correction of cleft palate/lip and ankyloblepharon. Genetic counseling is recommended.

Keywords:   Syndrome; Ectodermal dysplasia; Ankyloblepharon cleft palate and lip

    Introduction

Hay-Wells Syndrome, also known as AEC syndrome (ankyloblepharon-ectodermal dysplasia- clefting syndrome), is a rare genetic disease [1], with an autosomal dominant transmission. Sporadic cases have, however, also been described. First described by Hay and Wells in 1976 [2], it was later found that it is caused by a p63 gene mutation, a known regulator of epithelial development/differentiation and homologous of the TP53 oncosupressor gene [3,4]. It is a type of ectodermal dysplasia, leading to impaired development of hair, nails, teeth and glands, usually in association with cleft palate and/or lip and ankyloblepharon. These are considered the cardinal signs of the syndrome by most authors. This syndrome is present at birth and diagnosis is made based on the child's phenotypic features. The authors aim to describe a case of a male newborn with the cardinal signs of this syndrome at birth, as it is a very rare syndrome with just a few cases reported worldwide.

    Case Report

Male white newborn with no history ofparental consanguinity or other similar cases in the family. The baby was born by spontaneous vaginal delivery after an uneventful pregnancy with good prenatal care. At birth alopecia, ankyloblepharon, cleft palate, micrognathia and absent nails were detected (Figure 1a,1b & 1c- Phenotypic features). Anterior segment was normal, with no detected anomalies in the lacrimal apparatus. The rest of the physical examination was normal.

Ophthalmic ultrasound revealed a normal posterior segment. Abdominal and pelvic ultrasound were normal. Head ultrasound showed a small cyst in the pellucid septum and an apparent thickening in optic chiasmal area. Further study with Cranial MRI was normal, thus excluding a septum-optic dysplasia. Blood tests (CBS, electrolytes, hepatic function, kidney function, imunophenotyping and immunoglobulin levels) revealed a decrease in immunoglobulin A (X; normal range X), with no other changes. Hearing tests were normal.

Dermatology consultation recommended topical streoids in scarceeczematous areas and daily mineral ointments. Later hair prosthesis was discussed with the parents. Surgical correction of ankyloblepharon was carried out by ophthalmologists. Tearing of lid bridges was done in the operating room, under general anesthesia, using an electric scalpel in both eyes (Figure 2- Surgical correction of ankyloblepharon). Careful tearing with gentle pulling of the eyelids was carried out in order not to damage the underlying cornea. Post-operative period had no complications and after 12 months of follow-up lid edges are completely free (Figure 3 - After 12 months of follow-up).

Cleft palate was complete, type III. Surgical correction was performed according to Furlow and Von Langenbeck procedures by pediatric surgeons. Blood molecular analysis of TP63 mutations and deletions/duplications was normal; we are still waiting for molecular analysis of mouth mucosa specimen. Unfortunately, it was not possible to have parental authorization to carry DNA analysis in their cells. Speech therapy was also prescribed.

    Discussion

Hay-Wells Syndrome, also known as AEC Syndrome (ankyloblepharon-ectodermal dysplasia-clefting), is a rare autosomal dominant disease [1]. Ankyloblepharon, ectodermal dysplasia signs and cleft palate are considered cardinal signs of this syndrome [5]. All of these features were present in our case.

Ankyloblepharon results from fusion, partial or total, of superior and inferior lid edges. In general, eyelids remain closed until the 5th week of gestation, when they open spontaneously. The mechanism underlying this phenomenon is still on debate, but many author point out keratinization as the key [6]. Accordingly, any kind of anomaly occurring between 7th and 15th week of gestation can result in eyelid anatomy changes [6]. Ankyblepharon can also be present in Trisomy 18 and CHAND Syndrome (Curly hair-Ankyblepharon-Nail Dystrophy), being associated with heart malformations, hydrocephaly, imperforated anus and glaucoma. Ankyblepharon should then be a warning sign for the possibility of other important simultaneous diseases [7].

Ectodermal dysplasias are a group of diseases in which there is impaired development of hair, teeth, nails, sweet glands and other structures originating from ectoderm [8,9]. These anomalies, when associated with other malformations, correspond to a group of ectodermal dysplasia syndromes that includes EEC Syndrome (ectodactilia-ectodermal dysplasia- clefting), Rapp-Hodgkin Syndrome and Chand Syndrome, the most important differential diagnosis of Hay-Wells Syndrome [9]. In our case, none of the other malformations were identified, so that Hay-Wells Syndrome diagnosis was straight forward.

Hay-Wells Syndrome patients can have various degrees of alopecia, thin and scarce hair, onicodystrophies, palmoplantar hyperkeratosis, cutaneous pigment changes [10], hypohidrosis, hypodontia, teeth malformations and ear anomalies. Lacrimal canal obstruction is common. Other described features include super numerary nipples, otitis media, hypospadia, middle-facial hypoplasia, hypertelorism, low height, mental retardation, deafness and other ocular deformities.

At birth, a descamative erythrodemia can be seen, with superficial erosion and crusts. Scalp area usually shows an erosive dermatitis, which is a common source of infection, putting these patients at an increased risk of bacterial superinfection and sepsis; this leads to an increase in mortality and morbidity rate in newborns with this syndrome. A lot of Hay-Wells Syndrome cases are erroneously diagnosed as bullous epidermolysis due to the presence of erythrodermia and extensive areas of erosion. It is thought that scalp lesions can disappear with age or lead to alopecia [3].

Although concerns exist about wound healing in patients with this syndrome, there have been no reported instances of wound healing complications. Cleft lip and palate repair can then be performed safely in patients with Hay-Wells syndrome.

This syndrome is caused by a p63 gene mutation, an homologous of p53 oncosupressor gene [3,4], which has a central role in epidermal stratification process, regulating basal keratocyts proliferative capacity. Evidence showing that changes in this gene can be associated with other diseases like EEC and Rapp-Hodgkins syndrome reveal the high pleomorphic effect of p63 gene mutations. Hay-Wells Syndrome results specifically from amino-acid substitution in SAM domain (sterile alpha motif) [3,4].

Timely diagnosis is essential. As a genetic disease with multiple phenotypic features, multidisciplinary action is of main importance and treatment is symptom-oriented. Antibiotic ointments can be used in skin lesions. Surgical treatment is reserved for correction of cleft palate/lip and ankyloblepharon. Genetic counseling is recommended.

    Disclosure statement

No sponsorship or funding arrangements relating to research and no conflicts of interest to declare.

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